Double heterozygosity for hemoglobins C and Lepore in an American black man.
We describe a patient doubly heterozygous for hemoglobin (Hb) C-Hb Lepore. To our knowledge, this is only the second case reported in the United States. The erythrocyte morphology and clinical findings were suggestive of Hb C-beta-thalassemia. Following Hb electrophoresis, the correct diagnosis was postulated and was subsequently confirmed by a reference laboratory. We also present the family pedigree of Hb abnormalities. The morphologic alterations of the erythrocytes presented in this article, when seen in conjunction with the distinctive electrophoretic pattern, should suggest the abnormality in undiagnosed cases.
D044383:Black People; D001797:Blood Protein Electrophoresis; D004913:Erythrocytes, Abnormal / Q000473:pathology; D006444:Hemoglobin C / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree
D006455:Hemoglobins, Abnormal; D006444:Hemoglobin C; C037659:hemoglobin Lepore