Background: &beta-thalassemia is the most common monogenic disorder in human. The (CT) polymorphism at -158 upstream region of the &gammaG-globin gene and pharmacological factors such as hydroxyurea have been reported to influence &gamma-globin gene expression and the severity of clinical symptoms of &beta-thalassemia. Methods: In the present study, 51 &beta-thalassemia intermediate patients w...

We report prenatal diagnosis of phenylketonuria by linkage analysis of the markers linked to the phenylalanine hydroxylase (PAH) gene. Three markers comprising STR (TCTAT)n in intron 3, VNTR (30bp long cassette) in the 3' UTR and Xmn1 RFLP were ascertained in the affected child, the parents and the chorionic villi sample. The foetus was confirmed to be heterozygous for the mutant allele. The di...

Genetic studies identify common variants within the HBS1L-MYB intergenic region (HMIP), BCL11A, and Xmn1-HBG2 as associated with elevated fetal hemoglobin (HbF) levels other clinically important human hematological traits. Recent suggest HbF is a predictor of outcome in MDS/AML patients receiving decitabine. We assessed effects genetic on traits Myeloproliferative Neoplasm (MPN), Myelodysplasti...

background: &beta-thalassemia; is the most common monogenic disorder in human. the (ct) polymorphism at -158 upstream region of the &gammag-globin; gene and pharmacological factors such as hydroxyurea have been reported to influence &gamma-globin; gene expression and the severity of clinical symptoms of &beta-thalassemia.; methods: in the present study, 51 &beta-thalassemia; intermediate patie...