β-Thalassemia is the most common single gene disorder in Iran and more than 25,000 affected individuals have been reported.
It has been reported that in patients with β-thalassemia in the presence of
Xmn1 polymorphic site the level of Hb F and
Gγ:
Aγ ratio is increased. The prevalence of
Xmn1 polymorphic site,
Gγ:
Aγ ratio and Hb F in 197 β-thalassemia major patients from the Kermanshah Province of Iran were studied. The
Xmn1 polymorphic site was determined by PCR-RFLP procedure. The levels of
Gγ and
Aγ chains were detected by HPLC. The percent of Hb F was determined using electrophoresis method. In β-thalassemia major patients
the frequency of presence
Xmn1 was 0.39. The mean of
Gγ:
Aγ ratio was found to be 2.5. In the present study it was found that in the presence of
Xmn1 polymorphic site
Gγ percent and
Gγ:
Aγ ratio were significantly increased (
P = 0.01) and the clinical features such as splenomegaly and bone marrow expansion were significantly improved (
P = 0.01). We found that in the presence of
Xmn1 polymorphic site on both chromosomes (+/+) the level of Hb F tended to be increased compared to the absence of
Xmn1 (−/−). The present investigation has studied the frequency of
Xmn1 polymorphic site in β-thalassemia major patients from Western Iran and has revealed that the presence of this polymorphic
site caused a positive influence on Hb F production and the
Gγ percent which could improve the clinical symptoms of β-thalassemia patients.
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