home Adviсe How to treat beta thalassemia minor. What is beta thalassemia, its symptoms and treatment

How to treat beta thalassemia minor. What is beta thalassemia, its symptoms and treatment

Accumulating in the skin and mucous membranes ( oral mucosa, conjunctiva of the eye), bilirubin gives them a characteristic yellowish tint. The presence of jaundice is typical for severe forms of the disease and is an unfavorable prognostic sign.

Enlarged spleen ( splenomegaly)
The spleen is the main organ responsible for removing old and damaged blood cells from the bloodstream. In thalassemia, the main number of red blood cells formed in the bone marrow and released into the systemic circulation have small size and deformed surface. They cannot pass through the capillaries of the spleen, as a result of which they are retained and accumulate in it in large quantities, causing the organ to enlarge.

With prolonged splenomegaly, not only deformed red blood cells, but also other normal blood cells begin to be retained in the spleen ( platelets, leukocytes). They cannot pass through the capillaries of the organ, since they are completely filled and blocked by red blood cells. The result of this process is the development of hypersplenism - pathological process, characterized by destruction normal cells blood in an enlarged spleen.

Urate diathesis
One of the substances released into the bloodstream during the destruction of blood cells is purine. It is part of nucleic acids - DNA ( deoxyribonucleic acid) and RNA ( ribonucleic acid), which are part of the genetic apparatus of cells. Once purine enters the bloodstream, it is transported to the liver, where it is converted into uric acid.

With increasing concentration uric acid and its salts ( urates) in the blood, they can form crystalline compounds that settle in various fabrics body, causing damage.

The accumulation of uric acid and its salts can manifest itself:

Damage to joints. As a result of the deposition of uric acid salts on the articular surfaces of the bones, their deformation occurs, which is manifested by pain during movement. With a long course of the disease, deformation of the articular cartilages and limited range of motion in the affected joints develop.
Kidney damage. Urates accumulate in renal tissue and destroy it, which can lead to kidney failure.
Formation of urate stones. Crystals of uric acid salts can accumulate and form stones in the kidneys or bladder. Clinically, this manifests itself as pain in the lumbar region, difficult and painful urination, as well as a tendency to infections of the genitourinary organs.

Diagnosis of thalassemia

The diagnosis and treatment of thalassemia is carried out by a hematologist, who, if necessary, can involve specialists from other fields of medicine.

The main methods used in the process of diagnosing thalassemia are:

additional laboratory tests;
X-ray examination;
ultrasonography;
puncture bone marrow;
polymerase chain reaction (PCR).

General blood analysis

The simplest, fastest and safe method, allowing to identify deviations in the cellular composition of peripheral blood.

Blood collection procedure
Blood is taken in the morning, on an empty stomach. Blood is collected for analysis nurse. To prevent infection of the skin of the fingertip ( most often the nameless one on the left hand) is treated with a cotton swab soaked in 70% alcohol, after which a special disposable game is used to make a puncture to a depth of 2–4 millimeters. The first drop is removed with a cotton swab, after which several milliliters of blood are drawn.

Blood test in the laboratory
Part of the collected blood is transferred to a glass slide and stained with a special dye, after which it is examined under a microscope. The number of red blood cells is determined ( and other blood cells), their shape, size, color.

Another option is to place the test material in a special device - a hematology analyzer, which automatically performs a quantitative count of all cellular elements of the blood. This method more accurately determines the number of blood cells, but does not provide information about their shape and structure.

Changes in complete blood count in thalassemia

Index	What does it mean	Norm	Changes in thalassemia
*Shape of red blood cells*	The “extra” globin chains formed during thalassemia are not used in the synthesis of hemoglobin, but accumulate in the center of the cell, which, when studied in light microscope gives the red blood cell its characteristic appearance targets.	The red blood cells are uniformly red, round, and all of the same size.	Red blood cells are oval or round in shape, representing light cells with dark spot in the center ( target red blood cells).
*Red blood cell size*	As a result of disruption of hemoglobin formation, microcytosis develops, characterized by the formation of red blood cells of small diameter.	7,5 – 8,3 µm.	3 – 6 µm.
*Average red blood cell volume (* *MCV)*	This indicator is calculated by a hematology analyzer by dividing the sum of the volumes of all cellular elements by the number of red blood cells. Provides more accurate information than simply determining the size of red blood cells when examined under a microscope. In children and elderly people, the average volume of red blood cells may be slightly increased, which is not a deviation from the norm.	75 – 100 cubic micrometers ( µm 3).	Less than 70 µm 3
*Red blood cell count*	In thalassemia it is formed a large number of small red blood cells, but most of them are very quickly destroyed in the spleen, resulting in a decrease in the total number of these cells in the blood.	Men(M): 4.0 – 5.0 x 10 12 /l.	Less than 4.0 x 10 12 /l.
*Red blood cell count*		Women (AND ): 3.5 – 4.7 x 10 12 /l.	Less than 3.5 x 10 12 /l.
*Total amount of hemoglobin*	In thalassemia, hemoglobin synthesis is impaired in varying degrees (depending on the form of the disease), as a result of which its total amount in the peripheral blood is reduced.	M: 130 – 170 g/l.	Depending on the form of the disease, it may be normal or reduced, up to 10 g/l.
*Total amount of hemoglobin*		AND: 120 – 150 g/l.
*Average hemoglobin concentration in erythrocytes (* *MCHC)*	It is calculated by a hematology analyzer and provides more accurate data on the hemoglobin content in red blood cells, and not in the total volume of blood. Calculated by dividing total hemoglobin by the hematocrit.	320 – 360 g/l.	Less than 300 g/l.
*Platelet count*	With a long course of the disease, the phenomenon of hypersplenism may develop, which is characterized by a decrease in the number of all blood cells, including platelets.	180 – 320 x 10 9 /l.	Normal or reduced.
*White blood cell count*	With thalassemia, there is a tendency to frequent infectious diseases, which is characterized by an increase in the concentration of leukocytes. However, with the development of hypersplenism, their amount in the blood may decrease, so when assessing this laboratory indicator, the general condition of the patient should be taken into account.	4.0 – 9.0 x 10 9 /l.	Varies depending on the severity of thalassemia and the general condition of the patient.
*Reticulocyte count*	Thalassemia is characterized by an increased process of hematopoiesis in the bone marrow, as a result of which a large number of young forms of red blood cells are released into the bloodstream.	M: 0,24 – 1,7%.	2.5 – 4% or more.
*Reticulocyte count*		AND: 0,12 – 2,05%.	3 – 5% or more.
*Hematocrit*	This indicator reflects the ratio of the total volume of blood cellular elements to the volume of plasma. Since red blood cells are the main cellular elements of the blood, a decrease in their number and size in thalassemia will affect the hematocrit value.	M: 42 – 50%.	less than 32%.
*Hematocrit*		AND: 38 – 47%.	less than 38%.
*Color index*	Displays the hemoglobin content in red blood cells. In thalassemia, the globin chains are concentrated in the center of the red blood cells and the amount of normal hemoglobin is reduced, resulting in a reduced color index.	0,85 – 1,05.	0.5 and below.
*Erythrocyte sedimentation rate (ESR)*	In the vascular bed, red blood cells are in a “suspended” state in the blood plasma. If you put blood in a test tube and add an anticoagulant ( substance that prevents blood clotting), then after some time the blood will divide into two layers - heavier red blood cells will settle to the bottom of the test tube, and lighter plasma will remain on the surface. ESR is determined by negative charges on the surface of red blood cell membranes, which repel each other, preventing cell sedimentation. With thalassemia, both the total number of red blood cells and their size are reduced, as a result of which the ESR will be significantly increased.	M: 3 – 10 mm/hour.	more than 10 mm/hour.
*Erythrocyte sedimentation rate (ESR)*		AND: 5 – 15 mm/hour.	more than 15 mm/hour.

Blood chemistry

This study involves determining the presence and concentration of certain substances in the blood. The term “biochemical blood test” includes several thousand indicators, the simultaneous assessment of which is impossible and impractical. For each specific disease, only a few biochemical parameters are determined, changes in which can confirm or refute the diagnosis, as well as provide the doctor with information about the functioning internal organs and the state of metabolism in the body.

24 hours before blood collection it is necessary to exclude:

severe physical activity;
eating large amounts of fatty foods;
taking certain medications ( if possible);
consumption of alcohol and/or drugs;

Blood collection procedure
A nurse collects blood for biochemical analysis. Usually blood is taken from a superficial vein in the elbow area, however in certain circumstances ( in obesity, when it is impossible to determine the location of the vein) blood can be taken from a vein on the back of the hand.

Before starting the procedure, the patient's arm is bandaged with a rubber band in the shoulder area ( the outflow of blood is disrupted, the veins of the arm become filled with blood and become more visible, which makes it easier to determine their location).

Having previously treated the site of the intended injection with a cotton swab soaked in alcohol, the nurse inserts a needle into the vein, to which an empty syringe is attached. The needle should be inserted towards the patient's body, which corresponds to the direction of blood flow in the vein ( this prevents blood clots from forming after the procedure).

While inserting a needle into a vein, the nurse constantly pulls back the syringe plunger. When the needle is in the vein ( as evidenced by the appearance of dark cherry-colored blood in the syringe), the tourniquet is removed from the patient’s shoulder and a few milliliters of blood are drawn into the syringe, after which a cotton ball with alcohol is pressed to the injection site and the needle is removed. The blood is transferred into a test tube and sent to the laboratory for analysis. The patient is asked to sit in the corridor for 15–20 minutes to avoid complications ( dizziness, loss of consciousness).

Biochemical parameters determined for thalassemia

Index	What does it mean	Norm	Changes in thalassemia
*Bilirubin level (total fraction)*	The total amount of bilirubin in the blood is determined by adding the amount of unbound and bound forms. This indicator can be increased with increased breakdown of red blood cells or with diseases of the liver and biliary system, so its determination is indicative and should always be accompanied by the determination of individual bilirubin fractions.	0.5 – 20.5 µmol/l.	Often elevated, but may be within normal limits.
*Unconjugated bilirubin*	This fraction of bilirubin increases with massive destruction of red blood cells in the spleen and in the vascular bed, as well as their precursors ( predominantly erythroblasts) in red bone marrow.	4.5 – 17.1 µmol/l.	Always elevated, can reach several hundred micromoles in 1 liter of blood.
*Serum iron level*	As mentioned earlier, with thalassemia, the amount of iron in the blood increases due to increased absorption in the intestine, as well as as a result of transfusion of large volumes of donor blood.	M: 17.9 – 22.5 µmol/l.	Increased in severe forms of the disease, especially in combination with an enlarged spleen and liver.
*Serum iron level*		AND: 14.3 – 17.9 µmol/l.
Alanine aminotransferase level (AlAT) and aspartate aminotransferase (ASAT)	These substances are found in liver cells ( hepatocytes) in large quantities. An increase in their level in the blood indicates the destruction of hepatocytes and the release of these enzymes into the blood. This may be due to the development of foci of hematopoiesis in the liver or the toxic effect of free iron.	M: up to 41 U/l.	With a long course of the disease, it can increase tens of times ( depending on the degree of liver tissue damage).
		AND: up to 31 U/l.
*Uric acid level*	An increase in this indicator indicates an increased process of breakdown of blood cells in the spleen.	2.5 – 8.3 mmol/l.	It can increase several times, especially with the development of hypersplenism.

Additional laboratory tests

In addition to general and biochemical analysis, other laboratory blood tests are often performed, which help determine the severity of thalassemia and the degree of impairment of the hematopoietic function of the bone marrow.

The following are used in the diagnosis of thalassemia:

determination of the total iron-binding capacity of plasma;
determination of ferritin concentration in blood serum;
determination of erythropoietin level.

Determination of the total iron-binding capacity of plasma ( OZhSS)
The method is based on the ability of transferrin to bind and transport iron in a non-toxic form. IN normal conditions only part of the active centers of this protein is bound to iron, while the rest remain free. Using this mechanism, the concentration of free iron is regulated - when it increases, iron binds to the free active centers of transferrin, turning into a non-toxic form.

The total iron-binding capacity of plasma reflects the number of free active transferrin centers in the blood. Blood is taken from a vein in compliance with all the rules described earlier. The essence of the method is quite simple - a predetermined excess amount of free iron is added to a test tube with blood. Some of the iron binds to the free active centers of transferrin, the rest is removed and its amount is determined using special instruments. Based on the data obtained, conclusions are drawn about the life insurance system.

Normal values of TLC are in the range from 45 to 77 µmol/l. With thalassemia, the amount of free iron in the blood is significantly higher than normal. All active centers transferrin are in a bound state and are practically devoid of the ability to bind iron, as a result of which the TCI decreases.

Determination of serum ferritin concentration
Research recent years It has been established that the amount of ferritin in plasma is directly dependent on the amount of free iron in the body - as it increases, the concentration of ferritin also increases.

Based on the described mechanism, many methods have been developed for determining the concentration of this protein in the blood. One of the most commonly used is radioimmunoassay. Blood for this study taken from a vein, in the morning, on an empty stomach ( fence rules are described above).

The essence of the method is as follows - a special substance is fixed on a certain solid carrier ( antibody), which can selectively bind to ferritin. A sample of the blood being tested is added to it, and all the ferritin binds to this substance, forming a strong connection.

The next step is to add other specific antibodies to the solution, to which a radioactive label is attached ( the iodine atom is more commonly used). Free antibodies bind to ferritin and, when the solution is removed, are retained on the solid support.

The last stage is research in a special gamma counter, which allows you to determine the amount radioactive iodine on antibodies attached to ferritin. Based on the data obtained, conclusions are drawn about the concentration of ferritin in the blood.

The serum ferritin level depends on gender and is:

in men – 20 – 250 mcg/l;
in women – 10 – 125 mcg/l.

With thalassemia, the concentration of iron in the blood is increased, while the amount of ferritin can increase tens or hundreds of times.

Determination of erythropoietin levels
The essence of the method is to determine the amount of erythropoietin in the blood plasma. Radioimmunoassay can also be used for this purpose. The technique and rules of implementation are the same, only instead of antibodies to ferritin, specific antibodies to erythropoietin are used.

The normal concentration of erythropoietin in the blood is 10 – 30 mIU/ml ( international milliunits in 1 milliliter). In thalassemia, this indicator is increased several times, which is due to excess production of erythropoietin by the kidneys.

X-ray examination

A simple research method that allows you to obtain a shadow image of human bones and internal organs. The essence of the method lies in the ability of X-rays to pass through body tissues and be partially absorbed by them. As a result of this process, shadow projections of the organs of the area under study are formed on a special film.

Different organs and tissues absorb X-rays at different intensities, causing their shadow images to appear more or less clear on X-ray film. Bone tissue has the maximum absorption capacity in the human body, which is characterized by the lightest areas on x-rays. Air practically does not absorb X-rays and is defined as the darkest area in the image.

X-ray examination of patients with thalassemia can reveal:

Deformation of the skull bones. Their expansion and decrease in density on the radiograph are noted, which is due to the proliferation of bone marrow and a decrease in the amount of bone tissue.
Deformation of long tubular bones. It manifests itself as a decrease in bone density, thickening and curvature.
Increased size of the spleen and liver.

Although this method Widely used in various fields of medicine, it is associated with certain risks. X-rays are ionizing radiation and have the ability to damage the genetic apparatus of cells, leading to various mutations. The most dangerous complication is the development of cancer, so this study should always be justified.

Contraindications for performance x-ray examination are:

early childhood;
tumor processes in organism;
the presence of metal implants in the area under study.

Ultrasonography

This method is absolutely safe and harmless; it can be used to quickly and accurately determine the size and shape of internal organs.

The method is based on the ability of ultrasonic waves ( whose frequency exceeds 20,000 hertz) pass through body tissues and are partially reflected by them. The maximum degree of ultrasound reflection is determined at the boundary of two different media ( e.g. air and liquid, air and organ tissue, organ tissue and bone). In this way, it is possible to obtain an image of internal tissues and organs, to study their structure, density and consistency.

Modern ultrasound machines are quite compact and easy to use, so the examination can be carried out directly in the doctor’s office. The patient lies down on the couch and exposes the part of the body being examined. A special gel is applied to the surface of the skin, which fills microcracks in the skin ( the air they contain may interfere with testing), after which a sensor emitting ultrasound is applied to the skin.

The reflected ultrasound waves are recorded by a special receiver, and after computer processing, an image of the organ or area being examined appears on the screen.

When diagnosing thalassemia, the following is carried out:

Ultrasound of the liver. The liver is enlarged in size, increased density, heterogeneous consistency, with uneven edges. There may be denser areas consistent with the growth of scar tissue.
Ultrasound of the spleen. The spleen is significantly enlarged, has a heterogeneous consistency and increased density, and is filled with blood.
Ultrasound of the kidneys and bladder. Allows you to detect the presence of stones formed as a result of increased excretion of uric acid in the urine.

Bone marrow puncture

This method allows you to study in detail cellular composition bone marrow, on the basis of which conclusions can be drawn about the severity and nature of hematopoietic processes.

The collection of material for research is carried out under sterile conditions using sterile instruments. Most often, bone marrow is taken from the sternum, but puncture of other flat bones is also possible ( pelvic bones, vertebrae).

After treating the puncture site with a solution of 70% alcohol, the periosteum is pierced with a syringe with a special needle and top part bones. The needle is advanced 1–1.5 cm deep, after which 0.5–1 ml of bone marrow substance is collected. The needle is removed and the puncture site is covered with a sterile bandage. The resulting material is sent to the laboratory, where it is stained with special dyes and examined under a microscope.

When examining bone marrow puncture from patients with thalassemia, a pronounced increase in the number of cells, mainly erythrocyte precursors, is determined. They have a characteristic structure and size ( small light-colored cells with an accumulation of hemoglobin in the center).

Polymerase chain reaction

Using this method, it is possible to identify the mutant gene and the chromosome on which it is located, which allows you to confirm or refute the diagnosis of thalassemia in 99.9% of cases.

The principle of the method is the formation of a large number of copies of a certain gene and its subsequent study. The study requires a small amount of biological material containing cells ( blood, saliva, urine, etc.). The material to be tested is placed in a test tube and a set of special enzymes and reagents that activate the process of doubling a strictly defined gene for a certain chromosome, and only if this gene is present in the genetic apparatus of the cell.

In other words, in order to obtain copies of the gene encoding, for example, the formation of the globin a-chain, it is necessary that it be present on chromosome 16 and not be deformed. In this case, special substances recognize this gene, attach and copy it, after which the process is repeated many times. If this gene is not on the chromosome ( for a-thalassemia), no reactions occur.

The same principle is used to determine the presence or absence of all genes responsible for the formation of various globin chains. This helps to establish the form of thalassemia and determine the likelihood of transmitting the disease to descendants.

Elimination of complications of thalassemia

Unfortunately, on modern stage With the development of medicine, there is no medicine that can save a person from this disease. Big hopes provides a method of hematopoietic stem cell transplantation ( bone marrow transplants), however, its implementation is fraught with many difficulties and is not always possible. That is why the goal of treatment in most cases is to eliminate the symptoms of the disease and prevent the development of complications.

Mild forms of thalassemia often do not require treatment. Such patients are recommended to have a preventive general blood test every six months. In more severe forms, treatment should begin as early as possible, since a lack of oxygen in the body can lead to the development of irreversible changes in the internal organs.

The main directions in the treatment of thalassemia are:

increasing the level of red blood cells and hemoglobin in the blood;
eliminating excess iron;
reduction of urate diathesis;
surgical removal of the spleen;
bone marrow transplantation.

Increasing the level of red blood cells and hemoglobin in the blood

In severe forms of thalassemia, the amount of normal hemoglobin may decrease from the first days of a child’s life, which requires immediate treatment.

The only effective way to increase the number of red blood cells and hemoglobin in the blood is donor blood transfusion. The target hemoglobin level is 100 – 120 g/l.

Indications for blood transfusion are:

confirmed ( laboratory) diagnosis of thalassemia;
decrease in total hemoglobin below 70 g/l;
growth retardation;
deformation of the skull bones;
identification of foci of extramedullary hematopoiesis.

Blood transfusions carry a risk of developing certain adverse reactions. The longer and more often it is produced this procedure, the more severe the complications can be.

Possible adverse reactions during blood transfusion are:

increased body temperature;
allergic reactions;
massive destruction of red blood cells ( as a result of transfusion of incompatible blood);
infection of the recipient ( patient receiving blood transfusion).

Methods to increase the level of red blood cells and hemoglobin

Name of the technique

Mechanism therapeutic effect

Mode of application

Evaluation of treatment effectiveness

Whole blood transfusion

Donated blood contains all blood cells ( red blood cells, platelets, leukocytes and lymphocytes).

The effects of donor blood transfusion are:

improving oxygen delivery to tissues and organs;
decreased formation of erythropoietin in the kidneys;
slowing down hematopoiesis in the red bone marrow.

Whole donor blood is prescribed quite rarely, due to many adverse reactions. The only reasonable indication is the development of hypersplenism with a decrease in the number of all blood cells. Blood transfusions are performed 1–3 times a month, depending on the form and severity of the disease. 500 or more milliliters of blood can be transfused at one time.

hemoglobin level more than 100 g/l;
disappearance of pallor of the skin and mucous membranes;
normalization of the functioning of internal organs;
normalization of growth and development processes;
increasing endurance and concentration.

Red blood cell transfusion

The patient is given clean ( laundered) red blood cells. Therapeutic effects are the same as with whole blood transfusion, however, this method is characterized by a significantly lower number of complications, which is due to a smaller number of foreign cells entering the body.

Depending on hemoglobin levels and the clinical picture of the disease, red blood cells are transfused from 1 to 3 – 4 times a month. The duration of treatment is lifelong.

The criteria for the effectiveness of treatment are the same as for transfusion of whole blood products.

Elimination of excess iron in the body

Treatment of iron overload should be initiated at the same time as a blood transfusion to prevent iron accumulation in tissues ( in this case, the removal of excess iron from the body will take longer, and organ damage will be more pronounced).

Drug treatment of excess iron in the body

Drug name	Mechanism of therapeutic action	Directions for use and doses	Evaluation of treatment effectiveness
*Desferal (Deferoxamine)*	This drug has the ability to bind both free iron and iron contained in ferritin and transferrin. The complexes formed in this case are non-toxic and are quickly eliminated from the body.	Prescribed when serum ferritin increases above 1000 mcg/l. The drug is administered intravenously, by drip, at a dose of 20–40 mg/kg/day, at least 5 days a week. The duration of treatment is lifelong.	*Treatment effectiveness criteria are:* serum ferritin level less than 250 g/l; normalization of skin color and mucous membranes; normalization of the function of internal organs ( happens very slowly and not always in full).
*Exjad*	The mechanism of action is the same as that of Desferal, however this drug fixes iron more selectively, with virtually no effect on the exchange of other microelements in the blood.	Take orally, 1 time per day ( preferably at the same time), 30 minutes before meals. The initial dose is 10 mg/kg, if necessary, can be increased to 30 mg/kg. The duration of treatment is at least 1 year.
*Vitamin C*	Promotes the removal of iron from the body.	Take orally, 2 – 3 times a day. The recommended dose is 1 – 3 mg/kg/day. It is not recommended to prescribe simultaneously with Desferal.	The criteria for the effectiveness of treatment are the same as when taking Desferal.

Reduction of urate diathesis

In order to reduce the amount of uric acid and its salts in the blood, certain medications are prescribed that reduce the rate of formation of uric acid or promote accelerated elimination it from the body.

Drug treatment of urate diathesis

Name of the medication

Mechanism of therapeutic action

Directions for use and doses

Evaluation of treatment effectiveness

Allopurinol

An antigout drug used to reduce the amount of urate in the blood.

The main effects are:

reducing the rate of uric acid formation;
increase in the rate of uric acid secretion ( through the kidneys).

Inside, 3 times a day, after meals. The initial dose is 70 – 130 mg. If necessary, the dose can be increased to 200 mg. The treatment is long-term.

Treatment effectiveness criteria are:

disappearance of joint pain;
normalization of kidney function.

Benemid

A uricosuric drug that increases the excretion of uric acid in the urine. In addition, it increases the amount of urine excreted per day, which prevents the formation of stones in the kidneys and bladder.

Inside, after eating. The initial dose is 0.5 g/day. The dose is gradually increased until the concentration of uric acid in the blood normalizes ( maximum 3 g/day). Lifelong treatment.

Treatment effectiveness criteria are:

uric acid level in the blood is less than 8.3 mmol/l;
disappearance clinical manifestations urate diathesis;
increased concentration of uric acid in urine ( almost 2 times).

Surgical removal of the spleen

In severe forms of thalassemia, the spleen can enlarge several times, causing the development of many complications. In such cases, it is possible to remove the organ surgically ( splenectomy), which eliminates or reduces the severity of some manifestations of the disease.

Indications for surgical removal spleen in thalassemia are:

Development of hypersplenism.
Severe destruction of red blood cells in the spleen, requiring frequent transfusions of red blood cells.
A significant increase in uric acid and its salts in the blood that is not amenable to drug therapy.
Severe jaundice caused by the release of large amounts of bilirubin from destroyed red blood cells.

Before the operation, a CBC must be performed and the ability of the blood to clot is determined. If necessary, the level of hemoglobin, platelets and leukocytes is corrected, and coagulation factors are transfused.

The operation is performed under general anesthesia. The access is most often laparotomic - an incision is made in the abdomen, the vessels of the spleen are first ligated and then cut, and the organ is removed. The incision site is sutured with sterile threads and a sterile bandage, which changes every day. After surgery, it is recommended to avoid physical activity for at least one month.

Bone marrow transplantation

To date, this is the only method that can completely cure a patient with thalassemia. The essence of the method is the complete destruction of the patient’s entire bone marrow and the introduction of donor bone marrow into the vacated bone cavities. If the procedure is successful and the donor bone marrow takes root in the recipient's body, this will ensure normal synthesis of globin chains, which will eliminate the central link in the development of thalassemia.

Carrying out a bone marrow transplant includes many stages, the main ones being:

Thalassemia refers to diseases, when detected, they speak of X-linked recessive inheritance, that is, thalassemia does not have high degree development. The chances of encountering it are higher for those children in whom both parents have a history of the disease and will pass on the abnormal gene to their offspring. If such a problem is relevant only for one of the parents, then the likelihood that the child will also suffer from thalassemia is small.

In thalassemia, processes associated with the synthesis of polypeptide chains, which are part of the structure of hemoglobin, are disrupted. For this reason, special red blood cells appear that have a slightly different shape and are unable to transport oxygen to the cells and tissues of the body. Serious oxygen starvation, which all tissues and systems experience, leads to severe consequences, clearly visible visually.

Thalassemia is not widespread, but is more common diagnosed in certain regions where the chances of encountering malaria are higher, that is, in southern Asia and western Africa. In some areas of Latin America, cases of thalassemia are also recorded. Experts associate this feature with the specific operation of the protective system. It is believed that in this way the organisms of the residents received a primary compensatory and protective mechanism against malarial plasmodium - patients suffering from thalassemia do not suffer from malaria.

Classification

Thalassemia is characterized by disruption of globin chains. This could be a failure in one or more circuits. In any case, the production of the important iron-containing protein hemoglobin in the blood is disrupted, and it becomes impossible normal functioning red blood cells Based on information about the synthesis of which particular globin chain is impaired, and which pair of chromosomes is responsible for this, several groups and types of the disease are distinguished:

Alpha thalassemia. This type is characterized by the presence of a defect in one or several genes (HBA1 and HBA2) located in the 16th pair of chromosomes, which ensures the synthesis of globin alpha chains. In this case, the synthesis of beta chains occurs in normal mode, but due to disturbances in alpha chains the formation of an adequate globin complex is not possible. In this case, it is the number of available genes with a mutation that determines whether we will be talking about asymptomatic carriers, about alpha-thalassemia minor with a minimum of symptoms, or whether the patient will face hemoglobinopathy, in which thalassemia can be severe and even cause death. Also, with alpha thalassemia, intrauterine hydrops may develop, leading to fetal death.
Beta thalassemia according to all data medical statistics more common. This type is characterized by the location of the incorrect gene in the 11th pair of chromosomes. Eventually problems arise with the synthesis of beta-globin chains. The hemoglobin complex in this type is unstable and is quickly destroyed along with erythroblasts and red blood cells. With the development of this type of pathology, we can talk about an intermediate form, in which the required amount of hemoglobin is still produced, so the symptoms are not pronounced. It is also possible to develop beta thalassemia minor, in which clinical manifestations may not occur at all, since the amount of globin beta chains produced by the body is reduced only slightly. Some cases are associated with the development of Cooley's anemia - thalassemia major, the most severe type of the disease.

There is also a mixed form, which is quite rare. In the mixed form, disturbances are observed in both the alpha chains of globins and the beta chains. With such failures, the fetus has no chance of survival, and the child dies in the mother’s womb.

Causes

The cause of thalassemia is inheritance of certain problem genes. If a future child inherits genes with a mutation from both his father and mother, which happens quite rarely, he will most likely face the disease. If a dangerous mutant gene is hidden in the chromosomes of only one of the parents, the baby can become a carrier. In this state of affairs the likelihood of developing the disease is low, but there is still a certain risk, and theoretically it is estimated by doctors at 25-50%.

But most often, no external manifestations will be observed, and the newborn will be completely healthy. What exactly leads to this genetic mutation, experts don’t know yet.

Symptoms

Since the development of the disease is associated with the destruction of red blood cells, the external signs of thalassemia are very noticeable even in a newborn - the patient’s skin has a yellow or even “canary” color. When palpating, the doctor usually notices that the liver and spleen are slightly enlarged in size. The ultrasound results confirm this. The liver becomes larger due to the deposition of the pigment hemosiderin. Gradually, the size of the organ may decrease and its density will increase.

Since the disease triggers certain negative processes in the body, leading to tissue hypoxia, the child has disturbances in the formation of bone structures, problems in physical and mental development. TO external manifestations thalassemias also include pronounced Mongoloid type of face and tower-shaped head. Usually, upper jaw has abnormal big size. Over time, there is a widening of the nasal septum. The gradual destruction of the cortical layer of bones will lead to the fact that, approximately by the end of the first year of life, the bone tissue in the area of the feet will significantly increase in a small patient.

An important sign may be deterioration of general condition accompanied by severe shortness of breath. Typically, shortness of breath is associated with a deterioration in the condition of the cardiovascular system and possible heart failure, but in the presence of thalassemia, the heart and blood vessels may be in perfect order, and shortness of breath may occur with the slightest physical effort. The patient is also concerned about loss of strength, increased fatigue, almost constant dizziness, loss of appetite and others unpleasant symptoms, characteristic of anemia.

Diagnostics

Diagnosis of thalassemia is the responsibility of the hematologist. If necessary, the doctor can invite experts from other fields for further work, since the negative consequences of blood disease are observed in all organs and systems of the body, and the problems must be differentiated. As part of diagnosing the disease, specialists prescribe:

general blood test performed on an empty stomach;
blood biochemistry test, which assumes compliance certain rules physical activity, reception medicines and nutrition during the day;
PCR, which identifies the problematic gene and its chromosome, which allows you to confirm or exclude the suspected diagnosis with 100% certainty;
Ultrasound, which helps identify changes in the shape, size and structure of internal organs, especially the liver, kidneys and spleen;
bone marrow puncture, without which it is impossible to judge its composition and the nature of malfunctions in the hematopoietic system;
X-ray examination is necessary to create a complete picture regarding the condition of the skeleton and internal organs;
specific laboratory blood tests to determine the degree of damage to the hematopoietic system.

Equally important is a dialogue with the patient, during which you can obtain information about the family history of the disease and possible genetic abnormalities.

Treatment

Despite all efforts, geneticists and pharmacologists have not yet been able to develop effective techniques that can cure thalassemia. More often bone marrow transplant is used, but its implementation is associated with many difficulties and risks and is not always possible. Therefore, at this stage, all efforts of doctors are limited to influencing the intensity of symptoms and preventing complications.

Patients with mild thalassemia do not require special treatment, they are only asked get your blood tested regularly and follow some recommendations regarding lifestyle and nutrition. In cases of more complex forms of thalassemia, patients are prescribed medications and a diet designed to increase the level of hemoglobin and red blood cells. The patient is also recommended methods and means that can rid the body of excess iron and urates, including blood transfusions. In some cases, the patient may be advised to have the spleen removed.

Complications

Even if the little patient manages to survive because he is faced with a less dangerous type of illness, unfortunately, no one can guarantee him a healthy life. Most often, children with thalassemia suffer from problems with joint tissue; they are diagnosed with myocardial dystrophic changes, diabetes, and there are frequent cases of cirrhosis.

Prevention

As with many hereditary, genetically determined diseases, there is no need to talk about the possibility of preventing thalassemia.

Forecast

For young children, especially newborns, thalassemia poses a real and very serious threat. If a newborn patient is diagnosed with thalassemia major, the prognosis for the patient is bleak. Already within the first year of life the child may die- for this type of illness characterized by high mortality. If we're talking about about a less severe form and active treatment of thalassemia, the patient has every chance of survival.

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Hemoglobin is an element of red blood cells, its task is to transport oxygen. In its most general form, blood consists of alpha and beta proteins. Red blood cells are not produced in adequate numbers and cannot carry sufficient oxygen when the body does not produce a satisfactory amount of one of these proteins. The result is anemia, which develops from birth and lasts throughout life.

Thalassemia is not the name of one disorder, it is a whole group of diseases that affect the human body in different ways.

There are types such as α- and β-thalassemia.

4 genes are involved in the formation of the alpha chain of hemoglobin ( 2 from each parent).

If the mutation is in 1 gene, there are no symptoms of the disease. But a person is a carrier of the disease, there is a possibility that he will transmit the disease to the child;
2 genes were mutated - a mild form of the disease (alpha thalassemia minor, heterozygous thalassemia);
3 genes – the manifestation of symptoms will be moderate. This form is called hemoglobin H disease;
Four genes – alpha thalassemia major, hydrops fetalis. The condition leads to miscarriage, or the child dies almost immediately after birth.

In thalassemia of this type, 2 genes (one from each parent) are involved in the formation of the beta chain.

A single gene mutation is beta-thalassemia minor (beta-thalassemia trait). Mild form of the disease.
A mutation of two genes indicates that the manifestations of the disease will be severe. This is beta-thalassemia major (thalassemia major) or Cooley's anemia. Children with such genes are healthy in the first days of life, but in the next two years they develop symptoms of the disease.

Causes of the disease

Thalassemia occurs due to mutations in the DNA of the cells that make up hemoglobin. These mutations disrupt normal hemoglobin production and lead to a decrease in its level, causing anemia. This genetic defect, inherited by a child from his parents. If one of the parents is a carrier of the disease, the child is likely to develop thalassemia minor. There will be no visible symptoms, but the child will become a carrier of the disease. Some people with thalassemia minor notice minor symptoms.

About thalassemia and the risks of getting sick in the video below

Ask your question to a clinical laboratory diagnostics doctor

Anna Poniaeva. Graduated from Nizhny Novgorod medical academy(2007-2014) and Residency in Clinical Laboratory Diagnostics (2014-2016).

If both parents are carriers of thalassemia, there is a greater chance of inheriting severe form diseases.

Symptoms and signs

These symptoms directly depend on the type and severity of the disease. The clinical picture of thalassemia varies widely depending on the severity of the condition and the age of the patient at the time of diagnosis.

Signs and symptoms of different types of disease can be supplemented by the following:

Alpha thalassemia major: pallor, bloated belly, obvious hematological disorders in newborns;
Beta thalassemia minor: state of hemolytic anemia, severe pallor, distended abdomen due to hepatosplenomegaly;
Drastic bone changes due to ineffective production of red blood cells (hyperostosis of the frontal bone, visible facial bones, changes in dental occlusion);
Hypermetabolism;
Gout due to hyperuricemia (rare);
Too much iron;
Slowing growth and development;
Metabolic symptoms ( diabetes, thyroid disease);
Neuropathy/paralysis in patients with.

Thalassemia is genetic disease blood. An insufficient amount of hemoglobin, the protein responsible for transporting oxygen and carbon dioxide, is formed. It consists of four peptides. 90% of hemoglobin molecules contain two alpha globins and two beta globins (hemoglobin A or A1), 2.5% contain delta chains instead of beta chains (hemoglobin A2), and the rest are hemoglobin A that has aged during use in red blood cells ( hemoglobin A3). When a mutation occurs in the genes responsible for the synthesis of one of the globins, the composition of hemoglobin is disrupted. These changes lead to the death of red blood cells.

Causes and risk factors for developing the disease

Thalassemia is a hereditary disease, meaning the mutation is passed from parent to child. If one of your relatives suffered from this pathology, the risk of developing the disease increases.

The second risk factor is ethnicity. Thalassemia is most common in Africa. Central Asia and the Mediterranean countries, where it was discovered (translated from Greek “thalassemia” is “marine anemia”). There are two main types of thalassemia: alpha and beta. In the first case, the mutation affects the genes responsible for the synthesis of alpha globins, in the second - beta.

Alpha globins are encoded by four genes. The severity of the disease will depend on the number of pathologically altered DNA sections:

1 altered gene – asymptomatic form. But with it, a person becomes a carrier of the disease and can pass it on to his children;
2 genes – mild course illness;
3 genes – severe course of the disease;
4 genes is a rare type of disease that is poorly compatible with life. Most fetuses die during fetal development, and newborn babies generally die soon after birth or require lifelong therapy. In some cases, they can be cured by bone marrow transplantation.

Beta globins are encoded by a single gene, which is localized on chromosome 11. If the defective gene is contained in only one chromosome of a pair, the disease is mild (thalassemia minor). Damage to both chromosomes results in a very serious disease known as thalassemia major or Cooley's disease (Cooley's anemia).

ICD-10 codes (International Classification of Diseases, 10th revision):

alpha thalassemia - D56.0
beta thalassemia - D56.1
delta beta thalassemia - D56.2
carriage of thalassemia trait - D56.3
hereditary persistence of fetal hemoglobin (HFH) - D56.4
other thalassemias - D56.8
Thalassemia unspecified - D56.9

Symptoms and signs of thalassemia

In most cases, thalassemia is detected at the stage of prenatal diagnosis. If necessary, treatment begins immediately, without waiting for symptoms to appear. If the disease is not detected by prenatal diagnosis, the following symptoms are expected:

pallor or yellowness of the mucous membranes;
slow growth;
dark urine;
abdominal enlargement;
deformation of bones, especially the bones of the skull.

The time at which the first signs of thalassemia appear largely depends on the type of disease and the number of mutations. In some children, symptoms are registered soon after birth, in others - in the first two years of life.

Diagnosis of thalassemia

Symptoms of thalassemia are more or less characteristic. To make a final diagnosis, the doctor needs laboratory results. If thalassemia is suspected, a general blood test is required. It will show a reduced number of red blood cells that are small, light, different in shape and size. In addition to mature cells, the smear will contain many of their precursors - blasts. Additionally, others may be appointed specific tests blood to determine the severity of disorders (biochemical analysis, determination of iron-binding capacity of plasma or ferritin in serum). Molecular tests (PCR) have also been developed to determine the presence of mutations.

Ultrasound is used to assess the condition of the liver and spleen, and radiography is used to identify bone tissue pathology.

In a child, thalassemia can be diagnosed during pregnancy. This study is especially recommended for parents who are sick or may be carriers of this disease. There are two diagnostic methods:

chorionic villus biopsy - performed at the 11th week of pregnancy;
amniocentesis (sampling of amniotic fluid) - prescribed at the 16th week.

Treatment of thalassemia

Determined by type and severity. For moderately severe symptoms, treatment is not prescribed. From time to time only blood transfusions are performed. This is mainly necessary after operations, childbirth, or to prevent possible complications. People with beta thalassemia require more frequent blood transfusions. To normalize excess iron levels they are also prescribed specific drugs, which bind and remove iron.

For severe and severe forms of the disease, there are two treatment options:

frequent blood transfusions (every few weeks), which are combined with taking medications that remove excess iron from the body;
Bone marrow transplant is the only method that can completely cure a person of thalassemia. Unfortunately, transplantation is not always successful.

Medicines for thalassemia are prescribed only to correct symptoms and complications. Drug therapy the disease itself does not exist.

Complications of thalassemia

Possible complications of the disease:

excess iron, which is part of hemoglobin. The accumulation of this element in the body leads to damage to the heart, liver, and endocrine system;
susceptibility to infections. This is especially true for patients who have had their spleen removed;
bone deformation associated with an increase in bone marrow volume. Most often, this process affects the bones of the skull, less often the limbs. They become thinner and break more often;
splenomegaly is an enlargement of the spleen, where defective red blood cells mainly die. If the spleen is very enlarged, it is removed. This operation is called splenectomy;
delayed growth and puberty;
Heart diseases (chronic heart failure and arrhythmias) can develop in severe cases of the disease.

Correct lifestyle when sick

Exist simple tips, which help people with thalassemia better tolerate the symptoms of the disease.

do not take any vitamin-mineral complexes or nutritional supplements containing iron;
balanced varied diet;
prevention infectious diseases, first of all vaccination.

Prognosis for thalassemia

At mild form Thalassemia has a very good prognosis. Such patients do not require ongoing treatment, and complications are extremely rare. In moderate and severe forms, the prognosis is also good, but regular blood transfusions and iron-binding drugs are required. These medications are very important because greatest number deaths of patients with thalassemia are associated with the accumulation of this element in the body. Patients with bone complications may require surgery.

Prevention of thalassemia

Thalassemia is a hereditary disease. Therefore, if one or both parents are sick, it is necessary to consult a geneticist at the stage of pregnancy planning.

Medicine knows many diseases of a genetic nature that develop as a result of a peculiar “confluence” of circumstances. When both parents who carry certain abnormal genes pass on a disease to their child, it is called “genetic.” Thalassemia is such a disease.

What is thalassemia

Thalassemia is a genetic disease also called hemoglobinopathy. The disease is characterized by a violation of the synthesis of one of the components of hemoglobin - the protein part.

Hemoglobin (Hb) is the main component of red blood cells - erythrocytes. The main function of blood cells is to carry out respiratory function the body by transporting oxygen (O2) through the circulatory system. Also, red blood cells deliver “waste” - carbon dioxide back to the lungs to remove it from the body.

The structure of the hemoglobin molecule allows for the transport of gases, however, anomalies in its structure lead to disruption of this function.

Hemoglobin consists of two parts: the protein component and the pigment part. The polypeptide chains that form globin (the protein component) consist of two parts: two alpha polypeptide chains and two beta chains. Thus, we get four components, the coordinated work of which allows the red blood cell to perform its functions.

The genetic disease is caused by disturbances in these chains. Failures in α-components lead to the development of the disease alpha thalassemia. And disturbances in the β-chain provoke the occurrence of beta thalassemia.

In both types of disease, the process of hemoglobin synthesis is distorted, which leads to short-lived activity of red blood cells. As a result, the supply of oxygen to the cells and tissues of the body is disrupted. Oxygen starvation develops. The situation is extremely dangerous and provokes the occurrence of pathologies in human organs and tissues.

Locations of the abnormal gene

Depending on the location of the failure, several types of disease are distinguished:

Alpha thalassemia, which provokes a disorder in the synthesis of α-chains;
Beta thalassemia;
Delta thalassemia.
γ-thalassemia;
Thalassemia, provoked by a violation of the very structure of hemoglobin.

The most common diagnosis is beta thalassemia. The type of disease is divided into homozygous and heterozygous. Based on the severity of symptoms, beta thalassemia is divided into three forms:

big;
small;
intermediate.

Homozygous thalassemia, or thalassemia major, develops if both the father and mother of the child were carriers of the defective gene. It is also called Cooley's anemia. By the first year of life, a child with a similar gene exhibits a number of symptoms.

Heterozygous thalassemia is caused by the presence of an unhealthy gene in only one of the parents. The disease is called “minor” because of its insignificant manifestation and ease of progression. It happens that the symptoms are so mild that they remain practically unnoticed throughout life.

Thalassemia intermedia is characterized by a non-classical course of homozygous thalassemia, in which obvious signs, such as expressed hemolytic anemia, are missing. A person can do without blood transfusions.

Causes of severe form

The occurrence of beta thalassemia leads to the fact that “incorrect” beta globin predominates in the human blood, resulting in a decrease in the production of beta chains. The lack of these chains provokes the appearance of an excessive amount of alpha chains, which have a detrimental effect on the formation and further viability of red blood cells.

In the human bone marrow, most young blood cells die, and those that were able to survive and fully enter the bloodstream are at risk of destruction. Incomplete hemoglobin in such blood cells is weak and leads to the vulnerability of red blood cells. Also, such blood cells have a weakened membrane - a membrane that quickly collapses. This process is called and leads to homolytic anemia.

Constant hypoxia of the body leads to developmental delays in the sick child.

Homozygous thalassemia is divided into three stages depending on the nature of the symptoms and the severity of the course:

A severe form of the disease is diagnosed early. Contribute to this brightly severe symptoms. Most sick children do not live more than one year.
The moderate form is characterized by less aggressive symptoms, which allows the patient to live on average up to eight years.
The form, called the mildest, allows a person to survive to adulthood, however, the prognosis still remains disappointing.

Homozygous thalassemia results in the body's inability to produce hemoglobin alpha chains, resulting in fetal hemoglobin not being synthesized in the fetus. This form of the disease is incompatible with life and leads to fetal death or the development of dropsy, which leads to termination of pregnancy.

Types of disease in violation of beta chains

The genes that control the production of beta chains can be in different states:

Normal healthy gene. In healthy people, it is normal, which ensures the production of correct hemoglobin chains.
Gene with partial deviations. This pathology allows the body to produce normal hemoglobin, however, it is produced in insufficient quantities.
The gene is distorted so much that it completely prevents the formation of beta chains.

Depending on the extent of the disease, the following types of beta thalassemia are distinguished:

Minor thalassemia. In this type of disease, only one gene is damaged. There are practically no symptoms. Slight anemia may occur. Apart from anemia, a person does not complain about his health.
With a more serious pathology of the gene responsible for the synthesis of beta chains, thalassemia intermedia is observed. As a result of disruption of the hemoglobin production process, red blood cells are formed either underdeveloped or small in size. Blood transfusions are not necessary, however, the subsequent condition of the body directly depends on its ability to live with low hemoglobin levels.
Beta thalassemia type "major" is characterized by a violation of all genes responsible for the synthesis of beta chains. Patients with this type of disease require regular blood transfusions. This procedure allows the patient to live.

Symptoms of beta chain disorder

Homozygous thalassemia is diagnosed either immediately after the birth of a child, or during the first 10-12 months of life. Symptoms of the disease rarely go unnoticed until the beginning of the second year.

However, in most cases, developmental disorders become widespread, which becomes the reason for diagnosing thalassemia.

Thalassemia is diagnosed if the following symptoms are present:

A sick child has a deformation of the skull. The head has a square, tower shape.
Jaw large sizes, performing.
General features resemble the Mongoloid type.
The eyes, on the contrary, are small.
The bridge of the nose is set deep, almost flattened. Nose saddle-shaped. Nasal septum expands over time.
Malocclusion is often observed.
The skin has an unnatural color - yellowness skin caused by anemia. Gray color of the dermis is also found.
Hematopoiesis that occurs in the liver and spleen leads to an increase in these organs. When blood cells break down, hemosiderin is formed, which accumulates in tissues.

The level of immunity is very low. Children suffering from homozygous thalassemia are prone to a variety of diseases because protective function the body is missing. With a mild form of the disease, children live to adolescence However, they lack secondary sexual characteristics or their development is delayed.
Growth retardation is caused by a violation of the structure of the tubular bones. As a result of pathology, fractures may occur.
Synovitis of the joints may occur.
As a result of the disease, numerous ulcers of the lower extremities form.
Hemosiderosis leads to liver cirrhosis, as well as to pathologies of the pancreas, against which diabetes mellitus develops. Heart failure also results from excess hemosiderin.
Due to decreased immunity, the patient may suffer from pneumonia, as well as intestinal infections And .
The amount of hemoglobin decreases to 30-50 g/l.
As a result of elevated iron levels, cardiosclerosis develops.

Symptoms according to the heterozygous type of the disease

With the heterozygous type of thalassemia, it is not always possible to determine the presence of the disease. This is due to sluggish symptoms, usually of a general nature. The symptoms often resemble a number of other diseases, although patients often do not attach any importance to them. This type diseases can provoke symptoms similar to other diseases, however, the real reason There will be thalassemia, the diagnosis of which requires testing.

Symptoms characteristic of heterozygous thalassemia:

The patient complains of weakness and increased fatigue. Decreased performance and frequent apathies are possible.
Pale skin. There may be a slight manifestation of scleral icterus.
Examination reveals a slight enlargement of the spleen.
A blood test can show radically different results. Available normal level hemoglobin, but most often it is low. Anemia is hypochromic in nature. But the decrease in color index is most often insignificant.
Targeted blood cells are common. This may be a consequence iron deficiency anemia or lead intoxication.

When diagnosing a disease, an important indicator is the presence of the disease in the patient’s family members.

Alpha chain disorder

Alpha thalassemia is diagnosed when the synthesis of hemoglobin alpha chains is impaired. An additional beta chain appears in their place. As a result, it is violated main function hemoglobin: blood cells become unable to transport oxygen to cell tissue.

Symptoms depend on the degree of mutation of the genes that the child receives from his parents. Genes responsible for creating alpha chains can interfere with their formation to varying degrees.

Depending on the degree of gene mutation, alpha thalassemia disease is divided into forms:

With pathology of only one region of the gene, the symptoms are mild. The disease may go unnoticed.
The defeat of two loci results in the formation of red blood cells that are excessively small in size and leads to a decrease in hemoglobin levels. Loci can be affected either in one gene or in two different ones.
Pathology of three loci leads to the impossibility of high-quality transport of oxygen through circulatory system. An increase in the size of the spleen is often noted.
If all gene loci are affected, the synthesis of alpha chains is completely disrupted in the fetus, which leads to death in the womb or death immediately after birth.

Diagnosis of the disease

The main criterion when determining the presence of thalassemia in a patient is the test results.

Diagnosis of thalassemia is based on the blood picture:

Most forms of alpha thalassemia are characterized by a decrease in hemoglobin levels. The red blood cell count is in the range of 50-30 g/l, which is below normal.
The color indicator in the blood test is at 0.5, which is critical.
Anisocytosis is a pronounced change in blood cells, target-like red blood cells and basophilic granularity.
The blood cells themselves are hypochromic.
An increased level of reticulocytes is observed.
Biochemical blood parameters are also elevated. High iron levels can damage the heart muscles.
Exceeding the level of fetal hemoglobin in blood cells (sometimes up to 90%).

Treatment of hemoglobinopathy

Treatment of thalassemia depends on its type and the nature of the disease.

Thalassemia major refers to excessive hematopoiesis in bone tissue. With this type of disease, the patient becomes completely dependent on blood transfusions.

Treatment is carried out in three stages. On initial stage transfusions are carried out at an accelerated pace: in 14-21 days the patient undergoes from eight to ten transfusions. The result of this treatment is an increase in hemoglobin to 120-140 g/l.

The next stage is to reduce the frequency of transfusions. The procedure is carried out every three weeks in the amount of 20 milliliters per kilogram of weight. The goal of this process remains to maintain hemoglobin levels within 100 g/l. Thus, the symptoms caused by the disease “Cooley's anemia” are suppressed.

Then the frequency of transfusions is determined depending on the patient's condition and the course of the disease. This procedure not only improves overall well-being, but also has a positive effect on the skeleton, the condition of the spleen and has a beneficial effect on the development of the child.

A serious disadvantage of this method of treatment is the accumulation of iron-containing pigment in the body. The situation leads to an enlarged liver, as well as a disruption in the absorption of glucose by cells.

To eliminate the problem, treatment includes the drug Desferal, which is administered intramuscularly in a certain amount. It depends on how much blood the patient is transfused, as well as the age of the child. Often the medicine is combined with in small doses ascorbic acid.

In most cases, the described methods lead to an improvement in the condition; however, recently, bone marrow transplantation to the patient has been widely practiced, which also has positive results.

Treatment of heterozygous type

For heterozygous thalassemia emergency treatment not required. Since most often the hemoglobin level is within the normal range, transfusions are not needed for such patients.
The spleen rarely increases to a critical size, so cases of organ removal are rare.

Desferal is used to treat elevated iron levels. The drug also helps prevent siderosis.

Siderosis is a disease characterized by sedimentation in the lungs as a result of elevated iron levels.

A decrease in hemoglobin levels is observed with immunity disorders, namely with its decrease. Pregnant women are also at risk. Prescribed as treatment folic acid, the dosage of which is determined individually.

The use of iron-containing drugs is extremely dangerous for patients with this disease. Introduction to the body similar drugs can cause death in a patient who previously felt normal.

With thalassemia, doctors: a therapist and a hematologist are involved in diagnosing and prescribing treatment.