Hb North York [β117(G19)His→Asp]: A New β Chain Hemoglobin Variant

John S. Waye Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, ON, Canada; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, ON, CanadaCorrespondence[email protected]

Lynda Walker Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, ON, Canada

Lisa M. Nakamura Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, ON, Canada

Barry Eng Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, ON, Canada

Andrew McFarlane Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, ON, Canada

Abstract

Routine hemoglobin (Hb) analysis identified a new β chain Hb variant in an Iranian woman, who otherwise had normal hematological indices. Sequence analysis demonstrated that the Hb variant was due to a missense mutation at amino acid codon 117 (CAC>GAC, His→Asp) of the β-globin gene.

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Hb North York [β117(G19)His→Asp]: A New β Chain Hemoglobin Variant

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Hb North York [β117(G19)His→Asp]: A New β Chain Hemoglobin Variant

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