SOME CLINICAL, BIOCHEMICAL AND GENETIC OBSERVATIONS ON HEMOGLOBIN C

Abstract

One subject,a Negro woman with the homozygous state for hemoglobin C, had splenomegaly, mild anemia, and reticulocytosis. Blood smears showed many target cells. In 5 other patients with the combination of genes for sickle and C hemog. the anemia was milder and symptoms were fewer than in patients with classical sickle cell anemia. In the latter group 4 patients had splenomegaly; all had increased nos. of target cells. The u.-v. absorption curve, alkali resistance, and ultracentrifugation content of hemog. C were the same as for normal hemoglobin; hemog. C was distinguished from normal hemog. only by its electrophoretic properties. Occurrence of hemoglobin C in families supports the hypothesis that the gene responsible for this abnormal hemog. is transmitted as a simple incomplete Mendelian dominant.