Five variants of the β-globin gene without clinical or hematological effects: Hb Maryland [β47(CD6)Asp→His], Hb Kent [β37(C3) Trp→Cys], Hb Visayan [β136(H14)Gly→Cys], Hb Cutlerville [β138(H16)Ala→Val] and Hb Hornchurch [β43(CD2)Glu→Lys]

James Hoyer, Prabhjot Kaur, Elizabeth A. Kozak, Sophia Lum, David N. Alter

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

We report on five hemoglobin (Hb) β chain variants that were initially identified either by electrophoretic, chromatographic or isoelectric focusing (IEF) methods. These variants do not appear to be associated with clinical or hematological abnormalities. All variants were confirmed by DNA sequence analysis.

Original languageEnglish (US)
Pages (from-to)471-477
Number of pages7
JournalHemoglobin
Volume32
Issue number5
DOIs
StatePublished - Sep 1 2008

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Globins
DNA sequences
Isoelectric Focusing
DNA Sequence Analysis
Hemoglobins
Genes
asoxime chloride
hemoglobin Hornchurch

Keywords

  • β-Globin chain variants
  • Hemoglobinopathy

ASJC Scopus subject areas

  • Hematology
  • Genetics(clinical)
  • Clinical Biochemistry
  • Biochemistry, medical

Cite this

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title = "Five variants of the β-globin gene without clinical or hematological effects: Hb Maryland [β47(CD6)Asp→His], Hb Kent [β37(C3) Trp→Cys], Hb Visayan [β136(H14)Gly→Cys], Hb Cutlerville [β138(H16)Ala→Val] and Hb Hornchurch [β43(CD2)Glu→Lys]",
abstract = "We report on five hemoglobin (Hb) β chain variants that were initially identified either by electrophoretic, chromatographic or isoelectric focusing (IEF) methods. These variants do not appear to be associated with clinical or hematological abnormalities. All variants were confirmed by DNA sequence analysis.",
keywords = "β-Globin chain variants, Hemoglobinopathy",
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T1 - Five variants of the β-globin gene without clinical or hematological effects

T2 - Hb Maryland [β47(CD6)Asp→His], Hb Kent [β37(C3) Trp→Cys], Hb Visayan [β136(H14)Gly→Cys], Hb Cutlerville [β138(H16)Ala→Val] and Hb Hornchurch [β43(CD2)Glu→Lys]

AU - Hoyer, James

AU - Kaur, Prabhjot

AU - Kozak, Elizabeth A.

AU - Lum, Sophia

AU - Alter, David N.

PY - 2008/9/1

Y1 - 2008/9/1

N2 - We report on five hemoglobin (Hb) β chain variants that were initially identified either by electrophoretic, chromatographic or isoelectric focusing (IEF) methods. These variants do not appear to be associated with clinical or hematological abnormalities. All variants were confirmed by DNA sequence analysis.

AB - We report on five hemoglobin (Hb) β chain variants that were initially identified either by electrophoretic, chromatographic or isoelectric focusing (IEF) methods. These variants do not appear to be associated with clinical or hematological abnormalities. All variants were confirmed by DNA sequence analysis.

KW - β-Globin chain variants

KW - Hemoglobinopathy

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DO - 10.1080/03630260802341901

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