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

Research output: Contribution to journalArticlepeer-review

4 Scopus citations

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

Keywords

  • Hemoglobinopathy
  • β-Globin chain variants

ASJC Scopus subject areas

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

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