genotyping of individuals with hemoglobinopathies in beja tribes and other minor groups in port sudan, eastern sudan

Background and objectives: this study aimed to characterize the spectrum of β-thalassemia mutations and haplotypes of sickle cell anemia in beja tribes and other minor groups living in port sudan, sudan. methods: this descriptive cross-sectional study was carried out from march 2011 to july 2013. overall, 209 anemic patients were screened for hemoglobinopathy by capillary electrophoresis. the subjects were genotyped for β-thalassemia mutation by amplified refractory mutation system and for sickle cell haplotype by restriction-fragment length polymorphism. results: of the 209 patients, 29 (13.87%) showed the typical -88 (c→t) β-thalassemia mutation and 27 (12.91%) had sickle cell anemia, of whom 15 (55.6%) were heterozygous as and 12 (44.4%) were homozygous ss. based on results of the restrictionfragment length polymorphism; all subjects were with benin haplotype (benin/benin). conclusion: based on the results of this study, it is recommended to perform a potential carrier screening for the -88 (c→t) mutation and sickle cell benin haplotype by dna analysis.