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Hemoglobin
international journal for hemoglobin research
Volume 32, 2008 - Issue 5
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Hb Gerland [α55(E4)Val→Ala]: A Mutation Found on the α1-Globin Gene

Kamran Moradkhani INSERM, U841, Créteil, F-94000, France; AP-HP, Groupe Henri Mondor-Albert Chenevier, Service de Biochimie et Génétique, Créteil, 94010, FranceCorrespondence[email protected]
,
Jean Riou AP-HP, Groupe Henri Mondor-Albert Chenevier, Service de Biochimie et Génétique, Créteil, 94010, France
,
Alain Francina Unité de Pathologie Moléculaire de l'Hémoglobine, Fédération de Biochimie et de Biologie Spécialisée, Hôpital Edouard Herriot, Lyon, 69437, France
,
Henri Wajcman INSERM, U841, Créteil, F-94000, France; AP-HP, Groupe Henri Mondor-Albert Chenevier, Service de Biochimie et Génétique, Créteil, 94010, France
&
Claude Prehu INSERM, U841, Créteil, F-94000, France; AP-HP, Groupe Henri Mondor-Albert Chenevier, Service de Biochimie et Génétique, Créteil, 94010, France
Pages 478-484 | Received 08 Nov 2007, Accepted 20 Dec 2007, Published online: 07 Jul 2009
 
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Abstract

The Hb Gerland [α55(E4)Val→Ala] mutation has been described in the α2-globin gene. We report here the same mutation in the paralogous α1-globin gene. This variant was found in a healthy 18-month-old boy of Chinese origin. Abnormal hemoglobin (Hb) fractions were visible on isoelectric focusing (IEF) and cation exchange high performance liquid chromatography (HPLC), with elution patterns differing from one system to another. Direct sequencing of the α-globin genes revealed a GTT>GCT (Val→Ala) transversion at codon 55 of the α1-globin gene. We propose to name the variant encoded by the α1-globin gene Hb Gerland [A1], and the variant that is encoded by the α2-globin gene Hb Gerland [A2].

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