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Thalassemia 2016-11-07T21:10:05+00:00

WHAT IS THALASSEMIA?

An inherited blood disorder affecting the red blood cells. Thalassemia is caused by a mutation in the cell that makes hemoglobin. The mutation disrupts the normal production of hemoglobin, causing low hemoglobin levels, and a high rate of red blood cell destruction which brings on anemia. Thalassemia patients produce a deficiency in either the alpha- or beta- globin. The type of thalassemia depends upon the gene mutation a patient inherits from their parents and which part of the hemoglobin molecule is affected by the mutations. The severity of thalassemia depends upon the mutation of the gene.

TYPES OF THALASSEMIA

DIAGNOSIS

Thalassemia affects both males and females. The disorder occurs most often among people of Italian, Greek, Middle Eastern, Asian, and African descent.  Thalassemia is diagnosed in early childhood and is a lifelong condition.  Doctors diagnose thalassemia using blood tests.

TREATMENT

Treatment for thalassemia involves regular blood transfusions and folate supplements. Possible complications include high levels of iron from either the disease itself or from the frequent blood transfusions. Blood transfusions can help control some symptoms, but may result in too much iron which can damage the heart, liver and endocrine system. Left untreated, thalassemia major can lead to heart failure and liver problems.