Some clinical, biochemical and genetic observations on hemoglobin C.

Recent observations (1, 2) in certain American Negroes, of a previously unrecognized abnormal hemoglobin, now designated as hemoglobin C,2 constitute a significant advance in knowledge of familial anemias. The introduction of filter paper electrophoresis (3, 4) for identification of abnormal hemoglobins (5, 6) has facilitated the study of specimens of hemoglobin from a large number of subjects. With this laboratory procedure, the presence of hemoglobin C alone or in combination with another hemoglobin can readily be detected. This report deals with the clinical and hematological manifestations which have been encountered in patients with hemoglobin C. Of the total of twelve individuals included in the present study, one patient was found to have hemoglobin C alone, and thus represented the homozygous state for the gene for this abnormal hemoglobin. Five patients had the combination of genes for sickle and C hemoglobin and therefore belong to the group of patients with "sickle cell-hemoglobin C disease" (7) first described by Kaplan, Zuelzer, and Neel (1). The findings in six individuals with a mixture of hemoglobin C and normal hemoglobin are summarized in the discussion. The finding of a patient whose hemoglobin was entirely of the "C" variety afforded an opportunity to study some of the physico-chemical characteristics of this abnormal hemoglobin, which are included in the present report.

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