A laboratory strategy for genotyping haemoglobin H disease in the Chinese.

Background: The thalassaemias are the commonest blood disorders worldwide, with South East Asia and southern China as areas of high prevalence. Accurate diagnosis of these disorders helps in clinical management with improved outcome.

Methods: The alpha-globin genotypes of 100 Chinese patients in Hong Kong with haemoglobin H (Hb H) disease were characterised.

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.