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

N. Burnichon (1) , P. Lacan (1) , M. Becchi (1) , I. Zanella-Cleon (1) , Marc Aubry (1) , M. Mowafy (1) , N. Couprie (1) , A. Francina (1)

1 IBCP - Institut de biologie et chimie des protéines [Lyon]

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.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.

Domaines: Biochimie, Biologie Moléculaire

N. Burnichon, P. Lacan, M. Becchi, I. Zanella-Cleon, Marc Aubry, et al.. A new alpha chain hemoglobin variant: Hb Al-Hammadi Riyadh [alpha75(EF4)Asp-->Val (alpha2)].. Hemoglobin, 2006, 30, pp.155-164. ⟨hal-00313098⟩