Hb G-Waimanalo [A1] [α64(E13)Asp→Asn; HBA1: c.193 G > A] with Decreased Oxygen Affinity

Axel KarowDivision of Haematology, University Children’s Hospital, Zürich, Switzerland

Julia J.M. EekelsDivision of Haematology, University Children’s Hospital, Zürich, Switzerland

Karin ZurbriggenDivision of Haematology, University Children’s Hospital, Zürich, Switzerland

Marlis SchmidDivision of Haematology, University Children’s Hospital, Zürich, Switzerland

Markus SchmuggeDivision of Haematology, University Children’s Hospital, Zürich, Switzerland

Oliver SpeerDivision of Haematology, University Children’s Hospital, Zürich, SwitzerlandCorrespondence[email protected]

Abstract

A clinically asymptomatic 12-year-old girl showed microcytosis in routine examination. Cation exchange high performance liquid chromatography (HPLC), revealed two additional peaks eluting after Hb A and DNA sequencing uncovered a novel heterozygous mutation at codon 64 of the α1-globin gene. The hemoglobin (Hb) variant was annotated as Hb G-Waimanalo [A1]. Further analyses demonstrated a decreased oxygen affinity Hb compared to the normal Hb configuration.

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The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

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Hb G-Waimanalo [A1] [α64(E13)Asp→Asn; HBA1: c.193 G > A] with Decreased Oxygen Affinity

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Hb G-Waimanalo [A1] [α64(E13)Asp→Asn; HBA1: c.193 G > A] with Decreased Oxygen Affinity

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