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

Authors :
Michel Becchi
Nicole Couprie
Isabelle Zanella-Cléon
Nelly Burnichon
Philippe Lacan
Alain Francina
Mohammed Mowafy
Martine Aubry
Source :
Hemoglobin. 30:155-164
Publication Year :
2006
Publisher :
Informa UK Limited, 2006.

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.

Details

ISSN :
1532432X and 03630269
Volume :
30
Database :
OpenAIRE
Journal :
Hemoglobin
Accession number :
edsair.doi...........0a67f4c7f03bc8a48ea42581357165fc
Full Text :
https://doi.org/10.1080/03630260600642096