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

doi:10.1532/LH96.09004

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 journal › Article › peer-review

5 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 language	English (US)
Pages (from-to)	20-24
Number of pages	5
Journal	Laboratory Hematology
Volume	15
Issue number	3
DOIs	https://doi.org/10.1532/LH96.09004
State	Published - Sep 1 2009

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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10.1532/LH96.09004

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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.",

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AU - Akl, Pascale S.

AU - Kutlar, Ferdane

AU - Patel, Niren

AU - Salisbury, Catherine L.

AU - Lane, Peter

AU - Young, Andrew N.

PY - 2009/9/1

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AB - 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.

KW - 3-Dimensional molecular characteristics

KW - Hemoglobin Korle-Bu

KW - Hemoglobin S

KW - Hemoglobin β-chain variants

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

Abstract

Keywords

ASJC Scopus subject areas

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