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

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.