Hereditary non-spherocytic hemolytic disease

Abstract

Twenty patients with hereditary non-sphero-cytic hemolytic disease, with varying rates of hemolysis, are described. This familial disorder is characterized by the presence of an intra-corpuscular defect of the erythrocytes without definitive morphologic abnormalities. It is important to differentiate this disease from hereditary spherocytosis because splenectomy is of little or no benefit. When hemolysis is mild, constitutional hepatic dysfunction and posthepatic hyperbilirubinemia may be clinically indistinguishable from hereditary non-spherocytic hemolytic disease. Red cell survival studies are frequently required to establish the appropriate diagnosis. Our incidence of constitutional hepatic dysfunction was surprisingly low when these technics were employed. The nature of the red cell lesion in hereditary non-spherocytic disease is not known. Recent evidence supports the possibility of an enzymatic abnormality in at least some of the patients. Bilirubinemia, which is out of proportion to the severity of hemolysis, suggests a possible defect in bilirubin conjugation or transport in addition to the intrinsic red cell abnormality.