Clinical manifestations of α-thalassemia.

  title={Clinical manifestations of α-thalassemia.},
  author={Elliott Vichinsky},
  journal={Cold Spring Harbor perspectives in medicine},
  volume={3 5},
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 transfusions, and growth delay. Hemosiderosis develops secondary to increased iron absorption… CONTINUE READING