Molecular characterization of Hb Val de Marne [alpha133(H16)Ser-->Arg; AGC-->AGA; (alpha2)] in a Chinese family.
There have been two previous reports on Hb Val de Marne (Hb Footscray) [alpha133(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 alpha2- or alpha1-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 alpha2-globin gene. Since an increasing number of alpha-globin gene variants have been reported with the same protein alteration but with different mutations on the alpha1- or alpha2-globin genes, the mutation identified in the present family does not preclude the presence of other alpha-globin gene mutations leading to this hemoglobin (Hb) variant.
Division of Hematology, Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Hong Kong, P.R. China. eskma@hkucc.hku.hk
Edmond Shiu-Kwan
ES
Ma
Amy Yuk-Yin
AY
Chan
Anselm Chi-Wai
AC
Lee
D000293:Adolescent; D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics*; D001120:Arginine / Q000235:genetics; D002681:China; D003062:Codon / Q000235:genetics; D005190:Family; D005260:Female; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D017354:Point Mutation / Q000235:genetics*; D012694:Serine / Q000235:genetics
D003062:Codon; D006455:Hemoglobins, Abnormal; C085477:hemoglobin Val de Marne; D012694:Serine; D001120:Arginine