Thalassemia (thyroid cell anemia) is a group of genetically determined anemias (anemia) that can lead to the underdevelopment of a child, or even death in utero. What are the causes and symptoms of thalassemia disease? What is the treatment?
Thalassemia( thyroid cell anemia ) is a group of genetically determined hemolytic anemia, i.e. anemia in which there is a rapid and excessive breakdown of blood cells red (erythrocytes).
Thalassemias are found mainly in the Mediterranean, Africa and Asia. It is estimated that 4.83 percent. the general population of the world carries the gene for one of the forms of thalassemia. It is estimated that in the next 20 years the number of births with overt form of this disease in the world will reach 900,000, therefore it is treated as a serious he alth problem.
Thalassemia - causes
The cause of thalassemia is a defect in the gene that contains information about the structure of the hemoglobin molecule - the red blood pigment responsible for oxygen transport.
Hemoglobin is composed of heme and an envelope called globin chains. As a result of a genetic defect, the production of the latter is disturbed. The consequence is the destruction of red blood cells in the marrow and spleen, and further development of anemia. There are five types of globin chains, but the disease usually leads to a reduction in the production of alpha and beta chains, therefore two forms of the disease are distinguished: alpha-thalassemia and beta-thalassemia, the latter being the most common.
The disease is, in most cases, inherited in an autosomal recessive manner, which means that in order for a child to become ill, it must receive faulty genes from both parents.
Thalassemia - symptoms
There are two forms of beta thalassemia:
- mild - usually asymptomatic. At the end of the first year of life, a child may develop an enlarged spleen
- severe -Cooley anemia- immediately after birth, there is jaundice, enlargement of the spleen and liver, and skin ulceration in the ankle area. Characteristic is a large abdomen (in medical terminology hepatosplenomegaly) and the so-called mongoid face (maxillary hypertrophy with protrusion of the upper incisors tofront)
In the most severe form of thalassemia - alpha-thalassemia - the complete absence of alpha chains may result in death in utero (or shortly after birth) or lead to generalized fetal edema.
Thalassemia - diagnosis
If thalassemia is suspected, blood counts and bone marrow tests are performed. The final diagnosis is made on the basis of the hemoglobin electrophoresis test (high concentration of HbF - hemoglobin occurring during the fetal life). Genetic testing also plays a very important role in the diagnosis of thalassemia.
Thalassemia treatment
No treatment is required for mild beta thalassemia. People with Cooley's anemia have blood transfusions. You may also need to replenish your folate, vitamin C, and zinc deficiencies. In some cases, the doctor may decide to remove the spleen.
Bibliography:
Albrecht K., Adamowicz-Salach A., Siwicka A., Burzyńska B., Matysiak M.,Modern diagnosis of thalassemia in children - own experiences,"Journal of Transfusion Medicine "2011, vol. 4, no. 3
Internal diseases , edited by Szczeklik A.,Kraków 2006, vol. 2