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 Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USACorrespondence[email protected]

Prabhjot Kaur Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA

Elizabeth A. Kozak Spectrum Health, Grand Rapids, Michigan, USA

Sophia Lum Department of Primary Care, Southern California Permanente Medical Group, Carlsbad, California, USA

David N. Alter Spectrum Health, Grand Rapids, Michigan, USA

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.

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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]

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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]

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