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 Citations (Scopus)

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

Fingerprint

Sickle Hemoglobin
Hemoglobins
Sickle Cell Trait
Hemolytic Anemia
Heterozygote
Differential Diagnosis
Genotype
Phenotype
hemoglobin Korle

Keywords

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

ASJC Scopus subject areas

  • Hematology
  • Clinical Biochemistry
  • Biochemistry, medical

Cite this

Akl, P. S., Kutlar, F., Patel, N., Salisbury, C. L., Lane, P., & Young, A. N. (2009). Compound heterozygosity for hemoglobin S [β6(A3)Glu6Val] and hemoglobin Korle-Bu [β73(E17)Asp73Asn]. Laboratory Hematology, 15(3), 20-24. https://doi.org/10.1532/LH96.09004

Compound heterozygosity for hemoglobin S [β6(A3)Glu6Val] and hemoglobin Korle-Bu [β73(E17)Asp73Asn]. / Akl, Pascale S.; Kutlar, Ferdane; Patel, Niren; Salisbury, Catherine L.; Lane, Peter; Young, Andrew N.

In: Laboratory Hematology, Vol. 15, No. 3, 01.09.2009, p. 20-24.

Research output: Contribution to journalArticle

Akl, PS, Kutlar, F, Patel, N, Salisbury, CL, Lane, P & Young, AN 2009, 'Compound heterozygosity for hemoglobin S [β6(A3)Glu6Val] and hemoglobin Korle-Bu [β73(E17)Asp73Asn]', Laboratory Hematology, vol. 15, no. 3, pp. 20-24. https://doi.org/10.1532/LH96.09004
Akl, Pascale S. ; Kutlar, Ferdane ; Patel, Niren ; Salisbury, Catherine L. ; Lane, Peter ; Young, Andrew N. / Compound heterozygosity for hemoglobin S [β6(A3)Glu6Val] and hemoglobin Korle-Bu [β73(E17)Asp73Asn]. In: Laboratory Hematology. 2009 ; Vol. 15, No. 3. pp. 20-24.
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