Article
Xmn I polymorphism associated with concomitant activation of Gγ and Aγ globin gene transcription on a β0-thalassemia chromosome.
Blood cells, molecules & diseases - 15 Feb 2011
Haj Khelil Amel, Morinière Madeleine, Laradi Sandrine, Khelif Abderrahim, Perrin Pascale, Ben Chibani Jemni, Baklouti Faouzi
Abstract excerpt
The -158 (C→T) nucleotide change, known as Xmn I polymorphism, occurs in (G)γ-globin gene promoter, and results in elevated fetal hemoglobin (HbF). We found this mutation in cis of a β(0)-thalassemia splicing mutation. Despite the complete absence of adult HbA, the phenotype was only moderately severe with no detectable alteration of α-globin gene expression. Interestingly, the β-globin locus haplotype has not...
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