پديد آورندگان :
VAISI RAYGANI A. نويسنده , MERAT A. نويسنده , Haqhshenass M. نويسنده , Rezae M. نويسنده , RAHIMI Z. نويسنده
چكيده لاتين :
Background: Molecular genetic factors regulating hemoglobin
F (Hb F) expression are important modifiers of the severity
of sickle cell anemia (SS).
Methods: The prevalence of XmnI polymorphic site , the Gy:Ay
ratio and the Hb F level were determined using PCR-RFLP procedure,
HPLC and alkaline denaturation method, respectively, in
var ious haplotypes of 52 pat ients with SS, 18 pat ients with
sickle/li-thalassemia (S/Thal), 17 with sickle cell trait (AS) and
53 normal subjects from Fars and Khuzestan provinces who attended
the Hematology Research Center, Shiraz University of
Medical Sciences, Shiraz, Iran during 2002-03.
Results: The prevalence of XmnI (+/+) site in patients with SS
was 53.8% which was higher than that for S/Thal (23.5 %), AS
(22.2%) and normal individuals (7.5%). There was a correlation
between the presence of XmnI site and high Gy : ~ ratio in SS and
S/Thal patients with Arab-Indian homozygous or heterozygous
haplotypes (contingency coefficient=0.43, P=0.002) . In the present
study, the Hb F level was sign ificantly higher in SS patients
with one or two Arab-Ind ian haplotypes as compared to Bantu ,
Benin and Cameroon haplotypes. However, the Hb F level was
significantly higher in patients with S/Thal having two Xmnl
sites carrying Arab-Indian and Senegal haplotypes as compared
to Bantu , Benin and Cameroon haplotypes. The increasing effect
of presence XmnI s ite on Hb F level appears only when hemolytic
stress is present as in SS and S/Thal patients (contingenc gamma coefficient=0.35, P=0.01).
Conclusion: Th e presence of XmnI polymorphic s ite in haplotype
back grounds of Arab-Indian and Senegal in sickle cell
anemia is corre lated with high level of Hb F and G gamma:Ay rat io.
