The β-globin promoter −71 C>T mutation is a β+ thalassemic allele

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Abstract
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 independent cases with the same atypical Hb A:Hb S ratio, further confirming the mild thalassemic feature of this mutation. In addition, molecular screening of a set of subjects (with only Hb A) with borderline Hb A2 or MCV values revealed the presence of −71 C>T change in heterozygous state, altogether assigning the mutation as a mild β+ thalassemic allele. In a region such as Oman, where several genetic conditions of the red blood cell coexist (α- and β-thalassemia, Hb S, Hb D, Hb E) in significant frequencies, it is crucial to decipher the molecular basis of these atypical forms of β+ thalassemias, especially in a genetic counseling setting.

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