Yafteh

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Background: The simultaneous existence of two different abnormalities in a gene is referred to double heterozygosity. The most common form of it is the association of thalassemia and sickle cell disease, being termed sickle cell thalassemia. The aim of this research was to study all of the hemoglobinopathies in thalassemia major patients in Lorestan Province. Materials and methods: This study was carried out as a census. 65 thalassemia major patients who referred to Shahid Madani Hospital of Khorramabad (and their parents) were tested by CBC and Hb electrophoresis. DNA samples of patients whose parents had hemoglobinopathy were analyzed by PCR with the mutations specific primers for the probable presence of double heterozygosity. Findings: The parents of 2 out of 65 patients had HbS. So, the presence of double heterozygosity in their sibling was suspected. There was no known mutation characteristic of this gene in both of two chromosomes. Conclusion: Two out of the total 65 thalassemia major patients in Lorestan Province suffered from double heterozygosity for beta thalassemia/HbS. So, it is necessary to do more studies on genetic aspects of thalassemia patients and their parents.

Keywords: Beta thalassemia major, double heterozygosity, HbS, PCR, Hb electrophoresis

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