What is Thalassemia?

Thalassemia is an inherited blood disorder in which hemoglobin, an important part of the red blood cell is not made. As such there are fewer healthy red blood cells in the body and less oxygen in the blood. There are different types of thalassemia, called alpha and beta-thalassemia depending on which genes are affected, and the severity of the thalassemia is described as minor, intermedia, and major.

Who is at risk for Thalassemia?

Thalassemia is a genetic mutation so if there is a history of the disease in the family there is a bigger chance of one getting it. Alpha thalassemia is more common in Southeast Asians and beta-thalassemia is more common in those of Mediterranean descent.

What are the symptoms of Thalassemia?

Depending on the severity of the mutation symptoms can range from nothing to death. Generally, in symptomatic patients, the primary presentation is anemia, weakness, and fatigue. 

How is Thalassemia diagnosed?

Analyzing blood cells can clue a healthcare provider into thalassemia. Generally, red blood cells will be small and abnormal. Since the disease is genetic analyzing one’s DNA can provide a definitive diagnosis.

How is Thalassemia treated?

Thalassemia minor is normally asymptomatic and aside from genetic counseling, no treatment is needed. The more severe forms of thalassemia require blood transfusions to keep the number of red blood cells high enough to support normal oxygen distribution throughout the body. Vitamin C and folate can be used to help supplement red blood cell production. In some cases, a splenectomy needs to be performed to prevent red blood cells from being destroyed. Bone marrow transplant is a definitive treatment for thalassemia. 

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