Sickle Cell Hemoglobin D Disease in a Negro Colombian Patient

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Abstract
The case of a 40 year old woman with distinct negroid features, born and living in Quibdo, Choco, Colombia, complaining of occasional pain in her extremities, is presented. The liver edge was palpable 6 centimeters below the right costal margin. Hemoglobin electrophoresis in agar gel at pH 8.8 showed a single band of hemoglobin similar to S. Electrophoresis of her hemoglobin on agar gel with citrate buffer at a pH 6.0 separated the hemoglobin in two major bands. A quantitative densi-tometrlc measurement of these fractions gave the following results: Hb S, 47. 5%; Hb D, 47.5%; and fetal-llke hemoglobin 5%. The hemoglobin solubility in 2.8 [image] phosphate buffer was decreased. The fetal hemoglobin concentration by the alkali denaturation technlc was 0. 9%. She was not anemic and her serum bilirubin, reticulocyte count and bone marrow were all normal. Red cell survival studies using Cr51, gave a t1/2 of 27 days. The patient did not have anemia or a hemolytic process notwithstanding the presence of abnormal hemoglobin. The propositus was married to a negro person who had a normal hemoglobin. Of the 5 living children who were also studied, 3 had sickle cell trait and 2 had a hemoglobin D trait; all were asymptomatic. Frequency of hemoglobin S and D found in other Latin American communities is given.