Thalassemia

The more general text dedicated to anemia can be found here.

 

Thalassemia is a whole group of genetically determined congenital diseases that mostly occur in the Mediterranean region, but it may occur even in other areas of the word. Let just ad, that it is not a contagious disease.

Causes

The essence of the disease is a genetic disorder that affects the structure of hemoglobin. Hemoglobin is the blood pigment, which is found in the red blood cells and has the ability to carry oxygen to the peripheral tissues and carbon dioxide to the lungs. Hemoglobin comprises four protein chains – two alpha chains and two beta chains. In thalassemia, the production of certain chains is disrupted causing lack of alpha chains in alpha-thalassemia and lack of beta chains in beta-thalassemia. The excessive chains either form clusters within the erythrocytes or bind to inside part of the cell membrane. Either way, the stability of the red blood cell is decreased and the erythrocytes tend to disintegrate.

Symptoms

Red blood cells of the patients with thalassemia increasingly disintegrate and the situation may result in jaundice and anemia, which may manifest with signs of anemic syndrome (weakness, shortness of breath, pallor and dizziness). The breakdown of red blood cells causes spleen enlargement as the disintegration happens in this organ. It is important to know that thalassemia may range in severity depending on the exact genetic defect. Some forms are associated with only mild anemia; others have a very serious course and may even kill the patient. The severe forms usually kill the sick fetus before birth during its intrauterine development.

Diagnosis

The family history should have positive thalassemia cases in close relatives. The physical examination may help to detect the enlarged spleen and signs of anemic syndrome. The blood count show decreased number of erythrocytes and the lack of hemoglobin. Special tests can confirm the presence of abnormal forms of hemoglobin and genetic testing can determine the exact type of the disorder.

Treatment

Less severe types of thalassemia do not have to be cured at all and they have a good prognosis. More serious forms causing severe anemia must be symptomatically treated be repeated blood transfusions. The heaviest symptomatic forms of thalassemia can be cured by bone marrow transplantation.