Identification of a New δ Chain Hemoglobin Variant in a β-Thalassemia Carrier: Hb A₂-MUMC [δ13(A10)Ala → Asp]

Lynda Walker Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ontario, L8N 3Z5, Canada

Margie Patterson Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ontario, L8N 3Z5, Canada

Barry Eng Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ontario, L8N 3Z5, Canada

Andrew McFarlane Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ontario, L8N 3Z5, Canada

Dr. John S. Waye Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ontario, L8N 3Z5, Canada; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, L8N 3Z5, CanadaCorrespondence[email protected]

Abstract

We describe a case of β-thalassemia (thal) trait in which the patient also carries a novel δ chain variant due to a missense mutation at amino acid codon 13 (GCC → GAC, Ala → Asp). The level of Hb A₂ was not elevated, raising the potential for misdiagnosis.

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Identification of a New δ Chain Hemoglobin Variant in a β-Thalassemia Carrier: Hb A₂-MUMC [δ13(A10)Ala → Asp]

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Identification of a New δ Chain Hemoglobin Variant in a β-Thalassemia Carrier: Hb A2-MUMC [δ13(A10)Ala → Asp]

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Identification of a New δ Chain Hemoglobin Variant in a β-Thalassemia Carrier: Hb A₂-MUMC [δ13(A10)Ala → Asp]