title: Compound heterozygosity for hemoglobin C and hemoglobin Korle-Bu.
abstract: We describe a case of compound heterozygosity for hemoglobin C (beta6 Glu-->Lys) and hemoglobin Korle-Bu (beta73 Asp-->Asn). To our knowledge, this is the third case report of this unusual hemoglobin genotype, and the first to integrate data from cation exchange high-performance liquid chromatography, hemoglobin electrophoresis, and beta-globin gene sequencing. The principal hematological finding in our case was microcytosis without significant anemia. The previous case reports of this hemoglobinopathy also describe microcytosis, with varying degrees of hemolytic anemia. Given the relative gene frequencies of hemoglobins C and Korle-Bu, the occurrence of this compound-heterozygous genotype should be anticipated in people of African ancestry.
authors.affiliation: Department of Pathology and Laboratory Medicine, Emory University School of Medicine, Atlanta, GA 30303, USA.
authors.forename: Catherine L
authors.initials: CL
authors.lastname: Kossover
authors.forename: James R
authors.initials: JR
authors.lastname: Eckman
authors.forename: Andrew N
authors.initials: AN
authors.lastname: Young
mesh_terms: D044383:Black People / Q000235:genetics; D002851:Chromatography, High Pressure Liquid; D004586:Electrophoresis; D005260:Female; D006444:Hemoglobin C / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged; D017422:Sequence Analysis, DNA
chemical_list: D006455:Hemoglobins, Abnormal; D006444:Hemoglobin C; C026447:hemoglobin Korle