The patient has liver dysfunction related to hemosiderosis, diabetes mellitus, Hypertension, Chronic nephrotic syndrome, and chronic narcotic dependency. Family history indicates his father died of the same medical condition, and his sister is currently suffering with similar condition. It is caused by an impaired production of one of the polypeptide chains of the hemoglobin molecule, as well as in excess production of the other globin chains. Jaundice and Splenomegaly, which become evident early in childhood, prominent frontal bones, cheek bones, and jaws impart a mongoloids appearance.
Most patients require regular transfusion and develop problems due to iron overload.
Hemochromatosis commonly develops, and the major cause of death is cardiac failure due to myocardial siderosis by the end of the third decade. Unlike most hemolytic disease, the anemia is hypochromic and microcytic. This is probably due to the defect in hemoglobin synthesis. Extreme poikilocytosis with bizarre shapes, target cells, ovalocytosis, Cabot rings, Howell Jolly bodies, nuclear fragments, siderocytes, anisocytosis and often extreme normoblastosis are present. Normoblastosis is more severe after splenectomy.