A new alpha chain hemoglobin variant: Hb Al-Hammadi Riyadh [alpha75(EF4)Asp-->Val (alpha2)].

Abstract

A new hemoglobin (Hb) variant in the heterozygous state, Hb Al-Hammadi Riyadh [codon 75 (GAC-->GTC); alpha75(EF4)Asp-->Val (alpha2)] corresponding to an A-->T transversion on the second exon of the alpha2-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.

Cite this paper

@article{Burnichon2006ANA, title={A new alpha chain hemoglobin variant: Hb Al-Hammadi Riyadh [alpha75(EF4)Asp-->Val (alpha2)].}, author={Nelly Burnichon and Philippe Lacan and Michel Becchi and Isabelle Zanella-Cl{\'e}on and Martine Aubry and Mohammed Mowafy and Nicole Couprie and Alain Francina}, journal={Hemoglobin}, year={2006}, volume={30 2}, pages={155-64} }