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Large-scale genetic study of hereditary spherocytosis (HS) is complicated by the lack of well defined criteria for diagnosis of mildly affected cases. This paper presents a study of 181 members of 26 families in which normal members and affected members were classified by analysis of multiple laboratory tests. Hereditary spherocytosis is a familial hemolytic disease characterized by abnormal thickness of the erythrocyte. The spleen preferentially traps and destroys these abnormally shaped cells (1, 2). The hemolysis that results from this normal function of the spleen is terminated by splenectomy. Recent studies have turned from the mechanism of splenic trapping (still unclear) to the cause of sphering. Metabolic defects in the spherocyte were described by Prankerd, Altman and Young (3) in 1955, and recently Prankerd (4) has shown evidence that the metabolic changes are of greater significance to hemolysis than is the shape change. However, the metabolic defects are thought not to be pathognomonic of HS (5). Some evidence has been recently introduced showing that the membrane content of phosphatidyl ethanolamine is decreased (6). To date no unique enzyme defect has been demonstrated. In the absence of a specific diagnostic measurement we are compelled to rely on conventional hematologic procedures including standardized measurements of red cell fragility: osmotic fragility, autohemolysis, and mechanical fragility. The diagnosis of hereditary spherocytosis can be made with certainty only with laboratory aid and family study. Although some severe cases with clinical jaundice, splenomegaly, anemia, and

ASCERTAINING GENETIC CARRIERS OF HEREDITARY SPHEROCYTOSIS BY STATISTICAL ANALYSIS OF MULTIPLE LABORATORY TESTS*