FAMILIAL NONSPHEROCYTIC HEMOLYTIC ANEMIA

Abstract

A congenital familial chronic hemolytic anemia not conforming to the known types was observed in 3 members of a French-Canadian family. The erythrocytes were normochromic, normocytic to macrocytic, and had normal osmotic and mechanical fragility. Spherocytosis. elliptocytosis and sickling were absent but a moderate degree of ovalocytosis was present in many of the patients’ red corpuscles. No acid hemolysis could be demonstrated. The survival of erythrocytes transfused from one of the patients to a normal recipient was significantly shortened, whereas normal erythrocytes transfused into 2 of the patients survived normally, indicating an intracorpuscular defect. Clinically the condition was characterized by jaundice, hepatosplenomegaly, osseous changes, and a tendency toward the development of mongoloid facies. Typical hemolytic crises have been absent. Despite moderately severe anemia there has been remarkably little interference with normal childhood activity.