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Compound heterozygosity for hemoglobin S [beta6(A3)Glu6Val] and hemoglobin Korle-Bu [beta73(E17)Asp73Asn]
Pascale S Akl1, Ferdane Kutlar, Niren Patel
1Department of Pathology and Laboratory Medicine, Emory University School of Medicine, Atlanta, Georgia 30303, USA.
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.
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