Determination of genotypes cause to the deletional and nondeletional hereditary persistance of fetal hemoglobin (HPFH)

In the present study, totally 62 volunteers that have % 1.5 and upper level of fetal hemoglobin (HbF) were included to investigate the relation with HbF level and deletional and non-deletional mutations in both Gγ (G gamma) globin (HBG2) and A gamma (Aγ) globin (HBG1) genes. The promotor sequences were analysed for both two genes and the Chinese Gγ(Aγ δβ) type deletional mutation was screened. It was observed four variations such as -158C/T, -309A/G, -369C/G and -567T/G in the promotor of Gγ gene. Otherwise, it was also observed four variations in 5'-UTR (untranslated regions) and promotor of Aγ gene such as +25G/A, -369G/C, -499T/A and -588G/A. It was also observed a -222/- 225AGCA del homozigote and 6 variations as heterzigote in A gamma globin gene promotor region. To our results, there was a significant relationship between high HbF level and two variations in Gγ gene promotor (-309A/T and -369C/G) and between two variations in Aγ gene promotor (+25G/A ve -499T/A). The persons whose carry the mentioned variations with high levels of HbF showed that it might be existed a haplotipic effect between these variations.