Article
The β-globin promoter -71 C>T mutation is a β+ thalassemic allele.
European journal of haematology - 1 Nov 2011
Al Zadjali Shoaib, Wali Yasser, Al Lawatiya Fatma, Gravell David, Alkindi Salam, Al Falahi Kareema, Krishnamoorthy Rajagopal, Daar Shahina
Abstract excerpt
A novel β-globin gene promoter (-71 C>T) nucleotide change was recently posted to the HbVar database (ID 2701) without precision on phenotype and ethnicity. We found the same change in compound heterozygosity with Hb S [β6(A3)Glu>Val] in an Omani family with almost equal expression of Hb A and Hb S. This suggested that the -71 C to T mutation may be a mild β-thalassemic allele. Subsequent search found three other...
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