Genetic Considerations

Sickle cell anemia is the result of mutant betaglobin in which the mutation causes sickling of Hb. Sickle cell anemia (also known as homozygous sickle cell disease and Hb SS) accounts for 60% to 70% of sickle cell disease in the United States. Sickle cell disease may also result from coinheritance of the Hb S mutation with another abnormal Hb variant. These include: Hb C (E6K mutation): sickle-Hb C disease (Hb SC), Beta-thalassemia mutations: Sß + -tha-lassemia and Sß°-thalassemia, Hb D (D-Punjab; E121Q mutation) or Hb O (O-Arab; E121K mutation).

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