Tetragonal crystals of hemoglobin were observed in approximately 2 per cent of erythrocytes of a sixteen-year-old white male of Italian parentage, who had hemoglobin C in the absence of A, S, and F.
The clinical and hematological features of the patient described are similar to those with "pure" hemoglobin C disease reported by others. The essential features are: chronic anemia of a mild degree, congestive splenomegaly, evidences of increased red cell destruction, hyperplastic marrow with increased numbers of immature erythrocytes in the peripheral blood, target cells and increased erythrocyte resistance to hyptonic saline solutions.
Electrophoretic analysis of hemolysates of both parents, one brother and a maternal uncle revealed hemoglobin A and C. The hemolysate of one sister revealed only hemoglobin A. None of the relatives examined had hemoglobin S or F and none showed hematologic abnormalities.