May
08
23:01
Diseases of the blood

Thalassemia

Thalassemia

thalassemia photo Thalassemia - a special, genetically dependent disease that affects one of the main structural units of blood - red blood cells.It is important to emphasize that thalassemia is not deformed red blood cells, and has been developing in the presence of deformed red blood cells.The most dangerous and the most important feature thalassemia is a risk of destruction of the most powerful of damaged red blood cells - the development of hemolytic crisis.

It is also important to know that even though thalassemia is a disease associated with a genetic defect, but it has not such a high potential for development, such as other such diseases.In addition, the risk of developing this disease is high only in those patients in whom symptoms of thalassemia manifested both parents.If you have a confirmed diagnosis of thalassemia only father or mother, the risk of the development of the offspring will be very small, since the gene for this disease is simply overwhelming healthy genes.

Thalassemia is "endemic" disease, inherent only to certain peoples and nations (especially the peoples of the African continent, lationoamerikanskogo coast and Mediterranean nations).There is an opinion that such specificity of the disease has emerged as the primary compensatory and protective function of the body, where the basis of its mechanism was set the goal of protecting the body from common parasite in certain areas, it is circulating in the bloodstream - Plasmodium falciparum.

Overall, Thalassemia is a disease that requires constant monitoring and maintenance treatment.Patients with thalassemia are installed on dispensary registration, which will be carried out periodically throughout their lives.

Thalassemia causes

Underlying manifestations of thalassemia is red blood cell hemoglobin defect.In normal hemoglobin is composed of two of its components - the two chains (an alpha chain and a beta chain).For the correctness of these structures meet the special places (loci) in the human genetic code.For the synthesis of normal beta-chain loci responsible chromosome 14, and, respectively, for the creation of the alpha chain - the same loci but chromosome 11.

occurs in thalassemia gene mutation, a deletion (loss of one of the sections of the chromosomes).As a result, it lost part of chromosome loci that contain information about the correct structure of hemoglobin.

further pathological processes are based on the occurrence of thalassemia failures in the process of protein biosynthesis, thanks to which there are a chain of hemoglobin.For this purpose, the DNA chain at a special "carrier" - a chain of RNA through a sequence of its components must copy the information on the future structure of the protein produced.After that such a chain with the "stored information" is sent to the "protein factory" cells - the ribosomes and, reaching through it like a chain, is launching assembly protein.

in thalassemia in the genetic code of the above mutations laid wrong information, respectively, and the structure of a protein turns pathological.There are the following main pathological aspects: one fraction synthesis circuit generally inhibited and the other chain, on the contrary, it is synthesized in excess.Also, there is a destruction of the erythrocyte membrane structures as well as oxidation of the fraction chain that is reproduced in excess.As a result of these reactions, the erythrocyte loses its structure and can not perform its function: it becomes brittle and at the slightest contact with the vessel wall is destroyed.

erythrocyte destruction causes the release of further pigments and their deposition in tissues, and structures.This condition is called hemosiderosis.During its flow iron pigments accumulate in cells and destroy them.Then, these cells are replaced by connective tissue and organ function, where there was a deposition of pigment gradually lost until its complete stop.

addition of such "wrong" erythrocyte takes no more than its primary function - delivery of oxygen to tissues in need of them and the removal of carbon dioxide.As a consequence, these tissue hypoxia and gradually their death.

thalassemia to distinguish between fractions of hemoglobin, which are affected, as well as on the basis of its genetic manifestations.There are thalassemia with the defeat of the alpha chain (alpha-thalassemia) and thalassemia with damage to the beta chain (beta-thalassemia).Beta-thalassemia is divided into two subspecies, which are due to their genetic proyavlyaemostyu: homozygous thalassemia (thalassemia major) and heterozygous (thalassemia minor).

If thalassemia major abnormal gene will occur at 100%, so the clinical picture is very rich and colorful.When heterozygous thalassemia of the clinical signs do not develop, due to the partial inhibition (inhibition) manifestations of "mutant" gene.

Signs thalassemia

first signs of thalassemia appear even in the neonatal period.Thalassemia in children is extremely tough and severe disease.Due to the fact that the body in thalassemia started the process of tissue hypoxia - the child's bone structure is not formed normally, and there is a violation of the psyche.

Since thalassemia major is accompanied by hemolysis, the skin will have a characteristic "of hemolytic" color.It is important to note that this jaundice will have its special lemon or "canary" color due to the imposition of jaundice in the anemic pallor.

Another possible symptom of thalassemia is an objective palpable enlargement of the spleen and liver.The spleen collects red blood cells breaking up a large and increasing number of them, there is the so-called "workers 'hypertrophy' body.The increase is explained by the liver hemosiderosis and its massive deposition of enzymes in the liver cells.In the future, the liver will be on the contrary to decrease, and acquire a more dense consistency.

These features will be added as a typical common symptoms of anemia: weakness, fatigue, loss of appetite, severe dizziness, which may be accompanied by syncope.Another striking feature of anemia - against the backdrop of well-being with adequate physical activity, patients begin to celebrate at the sharp development of severe shortness of breath.This process is also explained by increasing hypoxia of the organism, which he tries to eliminate, often forcing herself to breathe.However, this feature may be adequate only in the presence of the normal function of the cardiovascular and respiratory systems.

more forms of Thalassemia Thalassemia is a subspecies of the high fatalities - a child might die in the first year of life.With long-term treatment and a less active form of higher life expectancy, but these patients with thalassemia suffer from extensive hemosiderosis: there gastritis, miokardiodistroficheskie defeat and destruction of the joints.

Thalassemia Diagnostics

There is a whole range of diagnostic measures to identify exactly thalassemia.The main principle of the diagnosis of thalassemia: defining characteristic of hematological changes, disruption of normal red blood cells and the identification of the structure of the hereditary nature of the disease.

possible hereditary character of the disease is usually determined by means of anamnesis of life and the disease of the patient with suspected thalassemia.Another important criterion in the diagnosis of thalassemia patient is ethnicity - belonging to the peoples of the Mediterranean region, the peoples of Africa, Latin America, the Caucasus (these peoples thalassemia is inherent in most, as mentioned above).

in blood in thalassemia occur following specific changes: reduced color index and hemoglobin level.Furthermore, in thalassemia can be determined very characteristic shape erythrocytes themselves: by disrupting the structure of hemoglobin, it will "mishenevidnoy" flattened (instead of the normal biconcave shape).Also, since due to the constant disintegration of red blood cells dramatically reduced the percentage of their relative content in the blood, the body automatically triggers the formation of new, and so the blood can detect a certain amount of future progenitors of red cells, reticulocytes.Absolutely the same reasons will be increased (hyperplastic) Red sprout in the hematopoietic bone marrow with a high number normoblasts, erythroblasts (all cells erythrocyte series).

also to be characteristic of thalassemia and symptoms of hemolytic extensive destruction: increasing performance of the indirect bilirubin, extremely high levels of iron in the blood serum (formed as a result of the collapse of output and hemosiderin pigment red blood cell in the blood) and visual indicator: hemolytic jaundice.It should be noted that only the implementation of all of the above methods of diagnosis in a complex allow to suspect probable presence of thalassemia patient.

Thalassemia treatment

Thalassemia is a disease belonging to the class of so-called "congenital diseases".This means that it can not be completely cured, it is impossible to inhibit the activity of the abnormal gene and the subsequent production of abnormal hemoglobin chains.

most attention in the treatment of thalassemia is given periodic transfusions (transfusions) of donor red blood cell mass.The main principle of this treatment is that the compensation for lost by a constant volume of red blood cells does not give an opportunity to develop a sharp decrease in hemoglobin level and then develop severe complications.

first transfusion of blood components in thalassemia begin with a 6-month old baby.The first cycle is the most intense: 2 weeks cycle generally should be held about 8 transfusions.Further, the frequency of procedures reduced to the optimum frequency that blood transfusion is 1 in about 3 or 4 weeks.The main index, which is necessary to look at the blood transfusion appointment and evaluation of its implementation - is the level of hemoglobin.Patients with thalassemia it should be above 100 grams per liter.Also you need to know the formula for calculating the number of packed red blood cells used for each patient, it is about 15-20 ml weight 1 kilogram of body weight of the patient.

donor red blood cells do not contain a defective hemoglobin structures, and therefore do not haemolysing and function throughout its normal life span.This allows you to compensate for such an important function for the body as its tissue oxygenation and prevent the development of tissue hypoxia.

Since thalassemia is accompanied by massive destruction of red blood cells, which contain hemoglobin, malformed, then the main therapy plan will thalassemia is another important symptom - hemosiderosis or massive deposition of products of broken red blood cells in the tissues.For its treatment scheme used Desferalom therapy.Desferal - is a special preparation of a number of drugs-chelates, capable of creating certain systems with pathological substances and remove them from the body.It aims to capture Desferal hemosiderin, which plays a major role in the development of hemosiderosis in thalassemia.For its purpose, it is important to adhere to the following scheme: the course of his appointment shall be not less than 3 weeks, and a single dose should be up to 3 grams per day.In order to confirm the effectiveness of this therapy at the end of each of its courses are held control: carried out by intramuscular injection and count the number of its chelates (complexes) in the urine.In the effective treatment of hemosiderosis in thalassemia this figure should not be higher than 1 1 mg.Also with thalassemia can assign complex: Desferal + ascorbic acid.Ascorbic acid has the effect of potentiation (exacerbating) action Desferal.

If thalassemia continues to progress, in this case it is necessary to carry out the removal of the spleen.This operation is performed for a large number of congenital anemia (including thalassemia) and is considered one of the most effective methods of stopping the massive destruction of erythrocytes.Moreover, such removal is a preventive and method: spleen body performs the function "depot" or warehouse and dying of old red cells and of their breakdown is implemented therein.Therefore, the spleen is always contained a very large number of red blood cells and circulating blood.When massive decay of the structure of red blood cells the spleen may rupture, leading to a drop in hemoglobin to its "lethal" level, blood loss and subsequent death.

Just have another newer treatment for thalassemia, and it was he, in conjunction with other methods, can significantly improve the patient's life.It is a bone marrow transplant.Namely donor erythrocyte germ.Such a new genetically healthy germ, and hence will be synthesized and healthy red blood cells with normal hemoglobin structure.

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