thalassemia

The thalassemia’s are the commonest monogenic diseases in man, it is a diverse blood related genetic disorder which involves errors or absence in genes responsible for the production of the globin chains known as hemoglobin, a protein present in the red blood cells. Thalassemia is an autosomal recessive disorder associated with defective synthesis of alpha or beta chain of hemoglobin (Elborai et al, 2012). The name thalassemia comes from the Greek word “Thalassa” meaning “the sea” because the condition was first described in populations living near the Mediterranean Sea (Nathan, 1988). Nevertheless, the disease is also prevalent in Africa, Middle East, South Asia, and pacific descent (Simon, 1999). Furthermore, thalassemia causes an immense disruption in the hemoglobin synthesis (Nathan, 1998).

Thalassemia patients have a genetic flaw of their red blood cells that affects the cells’ ability to produce normal hemoglobin. Red blood cells use hemoglobin to carry oxygen to tissues. As a result of the defect, most forms of thalassemia produce a chronic, lifelong anemia that begins in early childhood and often must be treated with frequent blood transfusions. According to the World health organization, thalassemia is the world’s most common genetic blood disorder and it is rapidly increasing, 5% of the world’s population are carriers and the percentage of people who are carriers of the gene is as high as 25% in some regions. Three hundred thousand affected babies born each year. The world health organization (WHO) predicts a doubling of these statistics within the next few decades (WHO, 2011).

Types of thalassemia patients vary from minor, major and intermediate. The minor patients are carrier of thalassemia, they do not show any symp...

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...cular Therapies, 1(1520-4383 ), 31-37.

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Elborai, Y., Uwumugambi, A., and Lehmann, L. (2012). Immunotherapy. Hematopoietic Stem Cell Transplantation for Thalassemia. 4(9), 947-956.

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