Article
Clinical manifestations of α-thalassemia.
Cold Spring Harbor perspectives in medicine - 1 May 2013
Vichinsky Elliott P
Abstract excerpt
α-Thalassemia mutations affect up to 5% of the world's population. The clinical spectrum ranges from an asymptomatic condition to a fatal in utero disease. Hemoglobin H disease results from mutations of three α-globin genes. Deletional forms result in a relatively mild anemia, whereas nondeletional mutations result in a moderate to severe disease characterized by ineffective erythropoiesis, recurrent...
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