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Hemoglobin
international journal for hemoglobin research
Volume 39, 2015 - Issue 6
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Short Communication

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]
Pages 432-434 | Received 26 Jan 2015, Accepted 14 Apr 2015, Published online: 06 Aug 2015
 
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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.

Declaration of interest

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

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