Clinical Manifestations of Alpha Thalassemia

Alpha Thalassemia Intermedia

  • Alpha thalassemia intermedia (Hemoglobin H Disease) results from a deletion of three out of four alpha chain loci.
  • Infants born with alpha thalassemia intermedia appear normal at birth but often develop anemia and splenomegaly by the end of their first year.
  • Hepatomegaly is not a common finding and there may be some association with mental retardation. Due to the hemolytic nature of this anemia, there may be an increase in respiratory infections, leg ulcers and gallstones. Skeletal changes are not commonly seen in hemoglobin H disease.
  • Every ethnic group can have occurrences of hemoglobin H disease; but it is most often seen in Southeast Asian, the Middle East and the Mediterranean islands.
  • Development and life expectancy are usually normal, but some affected individuals may require splenectomy and transfusion therapy.

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