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Title

CO-INHERITANCE OF SICKLE CELL TRAIT AND THALASSEMIA MUTATIONS IN SOUTH CENTRAL IRAN

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 Start Page 81 | End Page 86

Abstract

 Background: We aimed to determine the incidence of co-inheritance as well as interaction of SICKLE CELL TRAIT (SCT) and athal/bthal mutations in south and south central of IRAN.Method: We employed a PCR and restriction fragment length polymorphism techniques to confirm diagnosis of SICKLE CELL TRAIT. All subjects were screened for any a/b –thalassemia mutations using a gap-polymerase chain reaction and amplification refractory mutations system.Results: Our results showed combination of SICKLE CELL TRAIT and b-globin mutation results in a severe clinical course of similar to sickle cell disease, while coinheritance of a-globin gene defects usually modulates the clinical course. A coexistence of SICKLE CELL TRAIT and a-globin gene mutation was the frequent genotype in overall samples (57.5%).Conclusion: SICKLE CELL TRAIT mainly co-inherits with a-globin gene mutation in the south and south central region of IRAN. This combination modulates hematological indices and interferes with the SCT diagnosis.

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