Medical Laboratory Journal Medical Laboratory Journal mljgoums Medical Sciences http://mlj.goums.ac.ir 1 admin 2538-4449 2538-4449 10.61186/mlj en jalali 1397 8 1 gregorian 2018 11 1 12 6 online 1 fulltext
fa Genotyping of Individuals with Hemoglobinopathies in Beja Tribes and Other Minor Groups in Port Sudan, Eastern Sudan تحقيقي Original Paper <div><strong>ABSTRACT</strong><br> <strong>&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp; Background and</strong> <strong>objectives:</strong> This study aimed to characterize the spectrum of &beta;-thalassemia mutations and haplotypes of sickle cell anemia in Beja tribes and other minor groups living in Port Sudan, Sudan.<br> <strong>&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp; Methods:</strong> 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 &beta;-thalassemia mutation by amplified refractory mutation system and for sickle cell haplotype by restriction-fragment length polymorphism.&nbsp;<br> <strong>&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp; Results:</strong> Of the 209 patients, 29 (13.87%) showed the typical -88(C&rarr;T) &beta;-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 restriction-fragment length polymorphism; all subjects were with Benin haplotype (Benin/Benin).<br> <strong>&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp; Conclusion</strong>: Based on the results of this study, it is recommended to perform a potential carrier screening for the -88 (C&rarr;T) mutation and sickle cell Benin haplotype by DNA analysis.<br> <strong>&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp; KEYWORDS: </strong>Genotyping, Hemoglobinopathies, Thalassemia, Sickle cell disease, Port Sudan.</div> 40 45 http://mlj.goums.ac.ir/browse.php?a_code=A-10-1-550&slc_lang=fa&sid=1 Mohammed Omer Abaker Gibreel 100319475328460017216 100319475328460017216 Yes Department of Hematology, Coordinator of MLS, Port Sudan Ahlia College, Khartoum, Sudan Mubarak El Saeed Elkarsani 100319475328460017217 100319475328460017217 No Faculty of Medical Laboratory Sciences, University of Karary, Khartoum, Sudan Munsour Mohammed Munsour 100319475328460017218 100319475328460017218 No Hematology Department, Faculty of Medical laboratory Sciences, University of Sudan, Khartoum, Sudan Hanan Babeker El Taher 100319475328460017219 100319475328460017219 No El-Emam El-Mahdi University, Khartoum, Sudan