Aaron P. Scholnik, M.D.
Department of Internal Medicine
Charles P. Van Tilburg, M.D.
Department of Pediatrics
George C. Hoffman, M.B., B.Chir., M.R.C.Path.
Department of Laboratory Hematology
Hereditary elliptocytosis was first recognized as a genetically transmitted red cell abnormality in 1929.1,2 Since then many family studies have shown that the disorder is transmitted as an auto-somal dominant trait. The expression of this genetic abnormality is usually limited to the incidental finding of elliptical or oval-shaped red cells in the peripheral blood. Approximately 5% of affected individuals have a hemolytic anemia that usually presents during childhood and is of mild or moderate severity.3 Less frequently, neonatal jaundice4, 5 or aplastic crisis6, 7 may be the first evidence of the hemolytic process. An associated enzyme deficiency8, 9 or abnormal hemoglobin10, 12 may account for the hemolysis in some patients. There is evidence that the asymptomatic patients with normal hemoglobin levels have a compensated hemolytic process with a slightly shortened red cell lifespan.13 Close linkage between the Rh blood group genome and the elliptocytosis gene has been demonstrated in some families. Those families in which no such linkage can be demonstrated appear more likely to have evidence of he-molysis.13-17
Four children from two sibships of a large family of Italian descent (Fig. 1) had hemolytic anemia associated with hereditary elliptocytosis but had different manifestations. A study of the patients and their families was undertaken to determine the mode of inheritance, to investigate the possibility of linkage to blood group genes, to exclude the presence of any additional red cell abnormalities, and to estimate the incidence of compensated as well as overt hemolysis.
Patient III-1 (Fig. 2) was