| Compound heterozygosity for hemoglobin C and hemoglobin Korle-Bu. | |
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MedLine Citation:
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PMID: 18812284 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We describe a case of compound heterozygosity for hemoglobin C (beta6 Glu-->Lys) and hemoglobin Korle-Bu (beta73 Asp-->Asn). To our knowledge, this is the third case report of this unusual hemoglobin genotype, and the first to integrate data from cation exchange high-performance liquid chromatography, hemoglobin electrophoresis, and beta-globin gene sequencing. The principal hematological finding in our case was microcytosis without significant anemia. The previous case reports of this hemoglobinopathy also describe microcytosis, with varying degrees of hemolytic anemia. Given the relative gene frequencies of hemoglobins C and Korle-Bu, the occurrence of this compound-heterozygous genotype should be anticipated in people of African ancestry. |
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Authors:
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Catherine L Kossover; James R Eckman; Andrew N Young |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Laboratory hematology : official publication of the International Society for Laboratory Hematology Volume: 14 ISSN: 1523-6528 ISO Abbreviation: Lab Hematol Publication Date: 2008 |
Date Detail:
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Created Date: 2008-09-24 Completed Date: 2009-02-09 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9615688 Medline TA: Lab Hematol Country: United States |
Other Details:
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Languages: eng Pagination: 30-4 Citation Subset: IM |
Affiliation:
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Department of Pathology and Laboratory Medicine, Emory University School of Medicine, Atlanta, GA 30303, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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African Continental Ancestry Group
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genetics Chromatography, High Pressure Liquid Electrophoresis Female Hemoglobin C / genetics* Hemoglobins, Abnormal / genetics* Heterozygote* Humans Middle Aged Sequence Analysis, DNA |
| Chemical | |
Reg. No./Substance:
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0/Hemoglobins, Abnormal; 9008-00-8/Hemoglobin C; 9088-22-6/hemoglobin Korle |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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