AUSTRALIAN BETA(0)-THALASSEMIA - A HIGH HEMOGLOBIN-A(2) BETA(0)-THALASSEMIA DUE TO A 12 KB DELETION COMMENCING 5' TO THE BETA-GLOBIN GENE

作者：MOTUM PI^*; LINDEMAN R; HAMILTON TJ; TRENT RJ

来源：British Journal of Haematology, 1992, 82(1): 107-113.

DOI：10.1111/j.1365-2141.1992.tb04601.x

A large novel deletional beta-0-thalassaemia mutation associated with unusually high levels of haemoglobin A2 in heterozygotes is described in an Australian family. The deletion was characterized by restriction enzyme analysis followed by PCR amplification and sequencing of the breakpoint region. Australian beta-0-thalassaemia extends from 835 basepairs (bp) 5' to the cap site of the beta-globin gene downstream for 12.023 kb. This deletion, similar to previously described deletional beta-0-thalassaemias associated with high Hb A2, removes sequences 5' to the beta-globin gene promoter and emphasizes the functional importance of the 5' beta-globin region in eliciting the unusually high Hb A2 phenotype.

• 出版日期1992-9