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Thalassemia

  1. Symptoms
  2. Reasons
  3. Diagnosis
  4. Treatment


Thalassemia

a group of diseases of a hereditary nature, which are characterized by violation of the synthesis of certain chains of hemoglobin. The hemoglobin consists of two parts, heme and globin. Heme is a dye non-protein part of the composition that includes iron. Globin is the protein component, which consists of four protein chains, alpha-chains and beta-chains.

Symptoms

In this disease like thalassemia, symptoms may be different. Most often manifests thalassemia in children, along with all the symptoms. Characterized by such symptoms

  • tower (almost square) form of the skull
  • tapered nose
  • narrowing the gap the eye
  • the increase of the upper jaw
  • enlargement of the spleen and liver
  • pale and yellowing skin cover
  • ulcers in the area of the shins
  • the appearance of bilirubin stones in the gall ways
  • high weakness and fatigue
  • the decrease of the resistance of the body relative to stress
  • slow physical and sexual development.

Form

Depending on how the affected circuit, includes such forms of the disease

  • beta-thalassemia (affected beta chain)
  • alpha-thalassemia (affected alpha chain)

    • heterozygous carriers of overt gene
    • hemoglobinopathies N
    • alpha-thalassemia homozygous type
  • gamma-thalassemia
  • Delta-thalassemia
  • beta-Delta thalassemia
  • thalassemia, which is associated with disorders of hemoglobin structural nature
  • lepore-hemoglobinopathies
  • hemoglobinopathies Constant Spring (GS).

Depending on the shape varies

  • homozygous form, which is the result of inheritance of the gene from two parents
  • heterozygous form in which the gene is transmitted through one parent.

Clinical forms

  • most thalassemia major form of beta-thalassemia, which is fraught with such complications as liver cirrhosis, ulcers, fibrosis of the pancreas
  • intermediate form of beta-thalassemia. Occurs more benign. The signs are not as pronounced as in the previous embodiment, and show up later. Among the complications stands out enlargement of the spleen and injuries of the skeletal system
  • minor thalassemia. Noticed only mild anemia
  • the minimum beta-thalassemia. Is without symptoms and usually discovered by chance.

Depending on the severity of the disease stands out

  • severe (fatal in infancy)
  • the chronic form of moderate severity (patients may survive to school age)
  • the chronic form of mild severity (the patient surviving to adulthood).

Reasons

The cause of the disease gene mutation of that gene that is responsible for synthesis of globin chains. This gene can be inherited from one parent or two. The child’s body produces chains of hemoglobin is less than or does not produce at all. Products of other circuits that make up the globin, not ends. As a result, the formation of an unstable protein components of nature that destroy blood cells. Then manifested by anemia and in the internal organs is postponed glands.

Diagnosis

  • General inspection for the presence of characteristic features tower skull, saddle nose bridge shape, narrow eyes, an enlarged liver and spleen, pallor and yellowing of the skin skin ulcers in the region, the gap
  • also in such diseases as thalassemia, a blood test is a necessary method of diagnosis is determined by the reduction of hemoglobin, hypochromic red cells, color index, increase in reticulocytes, increase of serum iron
  • a blood smear small size of red blood cells, changing their shape
  • blood biochemistry
  • hemoglobin electrophoresis on acetate-cellulose film
  • analysis of the biosynthesis of globin chains
  • bone marrow puncture
  • x-rays of the bones
  • molecular study
  • studies in laboratory and clinical conditions
  • you may need to consult a hematologist and genetics.

Treatment

  • In the case of severe forms of transfusion of whole blood or red cell mass. However, they give only a temporary effect and can cause complications
  • Today, the most effective is the transfusion of thawed, washed or filtered red blood cells, which do not so often provoke side effects along with long-term introduction of iron chelates
  • Iron chelate is necessary to enter long-term (for several hours) under the skin. Because created special drugs that can be attached to clothing. The patient suffering from a severe form of the disease, should obtain this drug for five days a week my entire life. To prevent local tissue damage, sometimes you need to change injection sites. If there are hemolytic crises, it is necessary to introduce small areas of glucocorticoids
  • If the size of spleen increased, then it is removed. Such an operation can not be done for children up to 5 years. The normal age of 810 years. The positive effect observed during the first year after surgery, and then the condition may become worse. Increases the risk of infectious diseases
  • Today, the best method is a bone marrow transplant. This is the only radical method of treatment of the disease. However, it is difficult to find a donor
  • Patients should follow a diet which contains a lot of tannin, tea, cocoa, soya, nuts. These products help to reduce the absorption of iron.

There is also the need for symptomatic treatment

  • with the aim of improving hepatic functions assigned geroprotector for not less than one month
  • the purpose of the vitamin. With that helps to remove iron from the body.

Complications

If the severe form of the disease, it is often appear complications as a result of deposition in the tissues hemosiderin. Often develop cirrhosis of the liver and

and infarction, which may cause the death of a child.

Prevention

  • First of all, prevention must involve prenatal diagnosis
  • if mother and father suffer from the disease, it is necessary to study the fetus during pregnancy
  • if the parents have relatives who suffer from this pathology, it is necessary to turn to genetics before pregnancy planning to assign the necessary tests before delivery, so in the case of negative forecast in time to terminate the pregnancy.