Thalassemia

Thalassemias are inherited autosomal recessive disorders and represent the most common single gene disorder known. The cause is a genetic mutation that reduces or even halts the synthesis of globin chains. Impaired rate of synthesis of one or the two chains (alpha)- or (beta)- of adult hemoglobin (Hb A) results in hemolytic anemia. Clinical manifestations are diverse, ranging from asymptomatic hypochromia and microcytosis to profound anemia, which can be fatal in utero or in early childhood if untreated. Palliative treatment of severe forms of thalassemia by blood transfusion is eventually defeated by the associated problem of iron overload. The purpose of this paper is to gain further understanding of etiology, epidemiology, pathophysiology, manifestations, and management of the (beta)-thalassemia, the severe forms of which are by far the most important of all the thalassemia.
Etiology
In 1925, Thomas Cooley and Pearl Lee described a form of severe anemia, occurring in c...