[Case of deletion type beta(0)-thalassemia found in an Asian (Malaysian) family living in Japan].
Hb and gene analyses of a Malaysian mother and her two daughters with microcytic anemia living in Japan were performed. Hb analyses of their hemolysates by IEF and DEAE-HPLC revealed high values of Hb A2 and HbF, but abnormal Hbs such as Hb E and Hb Constant Spring, which cause beta- and alpha-thalassemia traits, were not detected. From these data, they were suspected to be beta-thalassemia carriers. The thalassemic mutations commonly found in the Asian area by ARMS and nucleotide sequencing methods were not detected, and the frameworks of the beta-globin gene and the haplotypes of the beta-like globin gene cluster between the mother and daughters were not identical. These results led us to conclude that there was a beta(0)-thalassemia mutation with a large deletion from the beta-globin gene beyond the 3'beta/BamHI polymorphic site 3' downstream to the beta-globin gene. However, the range of the deletion from the beta-like globin gene cluster has not yet been completed in detail. Recently, there have been many foreigners mainly from Asian countries in Japan. We may encounter people with the rare type thalassemic mutation described in the text besides the mutations frequently found in Asian countries.
Harano
Keiko
K
Department of Clinical Nutrition, Faculty of Medical Health Science and Technology, Kawasaki University of Medical Welfare, Kurashiki 701-0193, Japan. haranok@bcc.kawasaki-m.ac.jp
Harano
Teruo
T
D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D017353:Gene Deletion; D006239:Haplotypes; D006801:Humans; D007564:Japan; D008296:Malaysia / Q000208:ethnology; D005810:Multigene Family / Q000235:genetics; D009154:Mutation; D017422:Sequence Analysis, DNA; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000235:genetics*
D055544:beta-Globins