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Hemoglobin
international journal for hemoglobin research
Volume 30, 2006 - Issue 2
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SHORT COMMUNICATION

A New α Chain Hemoglobin Variant: Hb Al-Hammadi Riyadh [α75(EF4)Asp→Val (α2)]

Nelly Burnichon Unité de Pathologie Moléculaire, Fédération de Biochimie et de Biologie Spécialisée, Hôpital Edouard Herriot, Lyon, France
,
Philippe Lacan Unité de Pathologie Moléculaire, Fédération de Biochimie et de Biologie Spécialisée, Hôpital Edouard Herriot, Lyon, France
,
Michel Becchi Institut de Biologie et Chimie des Protéines (IFR128), Lyon, France
,
Isabelle Zanella-Cleon Institut de Biologie et Chimie des Protéines (IFR128), Lyon, France
,
Martine Aubry Unité de Pathologie Moléculaire, Fédération de Biochimie et de Biologie Spécialisée, Hôpital Edouard Herriot, Lyon, France
,
Mohammed Mowafy Laboratory Department, Al-Hammadi Hospital, Riyadh, Kingdom of Saudi Arabia
,
Nicole Couprie Laboratoire Marcel Mérieux, Lyon, France
&
Alain Francina Unité de Pathologie Moléculaire, Fédération de Biochimie et de Biologie Spécialisée, Hôpital Edouard Herriot, Lyon, FranceCorrespondence[email protected]
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Pages 155-164 | Received 04 Oct 2005, Accepted 02 Nov 2005, Published online: 07 Jul 2009
 
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Abstract

A new hemoglobin (Hb) variant in the heterozygous state, Hb Al-Hammadi Riyadh [codon 75 (GAC→GTC); α75(EF4)Asp→Val (α2)] corresponding to an A→T transversion on the second exon of the α2-globin gene, is described. The variant was characterized by DNA sequencing and mass spectrometry (MS). The variant was found during a routine Hb analysis for anemia in a 16-month-old boy who lived in Riyadh, Kingdom of Saudi Arabia.

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