Thalassemia is a hereditary preventable disease that is characterized with anemia. It is more prevalent in Mediterranean region and it is usually manifested by pallor, splenomegalia and developmental retardation before age of 1 year. Changes in facial bones and dysfunctions of organs, such as heart, liver and pancreas, secondary to iron accumulation can develop, if the condition is not properly treated. Underlying factor of anemia is the defect in synthesis of hemoglobin that is a structural component of red blood cells.
COURSE, SYMPTOMS AND DIAGNOSIS OF THALASSEMIA
Thalassemia follows one of three clinical courses:
Thalassemia trait: (thalassemia minor) Person has one thalassemia gene in genetic terms. This gene is transmitted from mother or father. However, person is healthy since the other gene is intact. Thalassemia trait is not a disease. However, complete blood count shows mild anemia. Moreover, person feels tired. Thalassemia trait and iron deficiency anemia are prevalent in our country and they lead to anemia that shows similar characteristics in complete blood count. Therefore, these two distinct conditions should not be confused. Diagnosis is based on hemoglobin electrophoresis. HbA2 (small form of hemoglobin molecule that carries oxygen in blood) is an important compound that is analyzed to diagnose the disease, and level of this compound is 3.4% in healthy subjects and 7% in patients. If both mother and father has thalassemia trait, risk of thalassemia disease that is a life-threatening condition is 25% for the child. If mother or father has thalassemia treat, the child is not at risk of thalassemia disease.
Thalassemia major: (Cookey anemia) This form of thalassemia is characterized with severe symptoms. Heart failure develops secondary to sudden-onset massive anemia when baby is only 6 months old. This condition requires blood transfusion at regular intervals. Even if blood is regularly transfused, survival will be limited to only a few years. If blood is not sufficiently transfused, bones are damaged secondary to excessive blood production in bone marrow, resulting with fractures and altered facial appearance of the child. Root of nose collapses and forehead and zygomatic bone will be abnormally prominent. Upper teeth migrate forward and head appears in rectangular form. Height will be short. Symptoms include shortness of breath, abnormal shape of facial bones, jaundice and tiredness. Spleen and liver enlarges. Child cannot survive until adolescence. Older children dies secondary to heart problems that are caused by massive accumulation of iron in body due to blood transfusion. Presence of HbF – a form of hemoglobin that is not found in healthy people, but identified in this disease by 50 to 90 percent- in blood, as indicated by hemoglobin electrophoresis, is a diagnostic sign of this disease.
Thalassemia intermedia: the condition is usually diagnosed after age of 1 year. Person is not completely healthy, but blood transfusion requirement is less in this form, similar to the thalassemia trait.
In severe thalassemia, person dies at age of 20 to 30 years secondary to heart failure. Blood transfusion programs combined with iron chelating agents help obtaining better treatment outcomes. Full recovery is achieved with successful bone marrow transplantation. Survival is not influenced in milder thalassemic conditions.
TREATMENT OF THALASSEMIA
Mild forms of thalassemia do not require medication therapy or any other treatment method. Therapeutic approaches are based on clinical picture. For some patients, iron supplementations are forbidden to avoid accumulation of iron in body. Severe thalassemia requires blood transfusion and folate supplementation. Patient receives desferrioximane in order to prevent hemosiderosis that develops secondary to massive iron deposition in body.
Beta thalassemia major – the clinical form of the disease – requires bone marrow transplantation. This treatment allows long survival in >80% of children who have no severe iron deposition and organ toxicity. Some forms of thalassemia may require splenectomy – surgical removal of the spleen.
A patient with thalassemia should be regularly supervised by doctor throughout the life. Patient should learn coping with this condition lifelong.