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Cell Journal، جلد ۱۳، شماره Supplement، صفحات ۰-۰
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عنوان انگلیسی P-9: Molecular Characterization of AlphThalassemia in North of Iran
چکیده انگلیسی مقاله Objective: Alpha thalassemia is among hemoglobinopathies encountered in Iran. Although it is not a serious health concern in north of Iran, but as few mutation combinations may lead to HbH disease which corresponds to a severe anemia, it's molecular characterization is important in genetic counseling and investigating some complex phenotypes due to coinheritance of alpha and beta thalassemia. Materials and Methods: Five Hundred non-related patients leaving in North Iran and presenting mild anemia with normal HbA2 were analyzed for common alpha globin gene mutations reported in Iran using Gap- PCR, RFLP and Reverse dot blot. Results: 3.7kb deletion was present in one third of patients. Other mutations were PolyA2 (13%), -5nt (6.2%), 4.2kb deletion (5.6%), Mediterraneen deletion (5%), Hb Constant Spring (3.4%) and PolyA1 (1.4%). No significant difference was observed in allele distribution among the four provinces studied. Conclusion: These data could be used as a basis for molecular screening of alpha thalassemia and genetic counseling in Northern provinces of Iran.
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نشانی اینترنتی http://celljournal.org/journal/article/abstract/1541
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