Compound heterozygosity for hemoglobin S [β6(A3)Glu6Val] and hemoglobin Korle-Bu [β73(E17)Asp73Asn]

Pascale S. Akl, Ferdane Kutlar, Niren Patel, Catherine L. Salisbury, Peter Lane, Andrew N. Young

Research output: Contribution to journalArticle

4 Scopus citations

Abstract

We report a case of compound heterozygous hemoglobins S [β6(A3)Glu6Val] and Korle-Bu [β73(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 [β121(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.

Original languageEnglish (US)
Pages (from-to)20-24
Number of pages5
JournalLaboratory Hematology
Volume15
Issue number3
DOIs
StatePublished - Sep 1 2009

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Keywords

  • 3-Dimensional molecular characteristics
  • Hemoglobin Korle-Bu
  • Hemoglobin S
  • Hemoglobin β-chain variants

ASJC Scopus subject areas

  • Hematology
  • Clinical Biochemistry
  • Biochemistry, medical

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