Objective: To correlate different polymorphisms of the β-globin cluster with fetal hemoglobin (HbF) level in β-thalassemia and E-β thalassemia patients. Methods: Fifteen thalassemia patients, seven with high HbF and not requiring transfusion, eight with lower HbF and requiring transfusion were studied for β-globin mutation, concurrent inheritance of α-thalassemia, RFLP haplotype, a C → T polymorphism at -158 of Gγ and configuration of an (AT)xTy motif at -540 of β-globin gene. Results: Senegal 5'β-haplotype and the polymorphism at -158 of Gγ was (P = 0.063) was linked to the high-HbF phenotype but the (AT)9T5 configuration of the (AT) xTx motif was not (P = 0.6). Study of 30 chromosomes revealed 7 different configurations of the (AT)xTx motif. Association of these motifs with specific β-globin mutations of this region has also been determined. Conclusion: The Senegal haplotype and the polymorphism at -158 of Gγ was linked to the high-HbF phenotype.
|Original language||English (US)|
|Number of pages||7|
|Journal||European Journal of Haematology|
|State||Published - Jul 1 2005|
- Xmn I polymorphism
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