title: Compound heterozygosity for hemoglobin S [beta6(A3)Glu6Val] and hemoglobin Korle-Bu [beta73(E17)Asp73Asn].
abstract: We report a case of compound heterozygous hemoglobins S [beta6(A3)Glu6Val] and Korle-Bu [beta73(E17)Asp73Asn] in a 2-year-old girl. This hemoglobin genotype is associated with a benign clinical course, much like the sickle cell trait; however, its laboratory characteristics are very similar to compound heterozygous hemoglobin S and hemoglobin D-Los Angeles [beta121(GH4)Glu121Gln], which produces severe sickling hemolytic anemia. We describe laboratory data used to resolve this important differential diagnosis and review the interactions between hemoglobin S and the variant hemoglobins that may account for the different clinical phenotypes in compound heterozygotes.
authors.affiliation: Department of Pathology and Laboratory Medicine, Emory University School of Medicine, Atlanta, Georgia 30303, USA.
authors.forename: Pascale S
authors.initials: PS
authors.lastname: Akl
authors.forename: Ferdane
authors.initials: F
authors.lastname: Kutlar
authors.forename: Niren
authors.initials: N
authors.lastname: Patel
authors.forename: Catherine L
authors.initials: CL
authors.lastname: Salisbury
authors.forename: Peter
authors.initials: P
authors.lastname: Lane
authors.forename: Andrew N
authors.initials: AN
authors.lastname: Young
mesh_terms: D001741:Black or African American; D001772:Blood Cell Count; D002675:Child, Preschool; D002851:Chromatography, High Pressure Liquid; D003062:Codon; D003937:Diagnosis, Differential; D004586:Electrophoresis; D005260:Female; D006580:Genetic Carrier Screening; D006451:Hemoglobin, Sickle / Q000235:genetics* / Q000302:isolation & purification; D006453:Hemoglobinopathies / Q000175:diagnosis; D006455:Hemoglobins, Abnormal / Q000235:genetics* / Q000302:isolation & purification; D006801:Humans; D008958:Models, Molecular; D010641:Phenotype; D016133:Polymerase Chain Reaction; D020539:Sequence Analysis, Protein; D055544:beta-Globins / Q000737:chemistry*
chemical_list: D003062:Codon; D006451:Hemoglobin, Sickle; D006455:Hemoglobins, Abnormal; D055544:beta-Globins; C026447:hemoglobin Korle