Skeletal abnormalities due to expansion of marrow, chipmunk facies. Cardiomegaly and heart failure, Hepatomegaly and splenomegaly - production and distruction. Short life expectancy - severe disease rarely make adulthood. Transfusions lead to iron overload, hemosiderosis, with abnormalities in endocrine, hepatic and cardiac function. Therapy - transfusions, folic acid, splenectomy, desferrioxamine.
Homozygotes die in utero.
Heterozygotes have severe anemia, splenomegaly. HSS at -6.1 and all structural genes of the globin cluster intact. RBC morphology normal. Decrease in HbA2. No clinical disease.