Molecular Characterization of Hb Val de Marne [α133(H16)Ser→Arg; AGC→AGA; (α2)] in a Chinese Family

Abstract

There have been two previous reports on Hb Val de Marne (Hb Footscray) [α133(H16)Ser→Arg] in the literature, but the molecular characterization has hitherto not been described. Based on the Ser→Arg transition, the presumed mutation was cited as AGC→CGC of the α2‐ or α1‐globin gene. We have found this variant in a 15‐year‐old Chinese girl and her father, and automated DNA sequencing revealed an AGC→AGA mutation at codon 133 of the α2‐globin gene. Since an increasing number of α‐globin gene variants have been reported with the same protein alteration but with different mutations on the α1‐ or α2‐globin genes, the mutation identified in the present family does not preclude the presence of other α‐globin gene mutations leading to this hemoglobin (Hb) variant.

• Hb Val de Marne
• Hb Footscray
• Mutation detection
• Chinese