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Abaker Gibreel M O, El Saeed Elkarsani M, Mohammed Munsour M, El Taher H B. Genotyping of Individuals with Hemoglobinopathies in Beja Tribes and Other Minor Groups in Port Sudan, Eastern Sudan. mljgoums 2018; 12 (6) :40-45
URL: http://mlj.goums.ac.ir/article-1-1140-en.html
URL: http://mlj.goums.ac.ir/article-1-1140-en.html
Mohammed Omer Abaker Gibreel 
1, Mubarak El Saeed Elkarsani2 , Munsour Mohammed Munsour3 , Hanan Babeker El Taher4 
1, Mubarak El Saeed Elkarsani2 , Munsour Mohammed Munsour3 , Hanan Babeker El Taher4
1- Department of Hematology, Coordinator of MLS, Port Sudan Ahlia College, Khartoum, Sudan
2- Faculty of Medical Laboratory Sciences, University of Karary, Khartoum, Sudan
3- Hematology Department, Faculty of Medical laboratory Sciences, University of Sudan, Khartoum, Sudan
4- El-Emam El-Mahdi University, Khartoum, Sudan
2- Faculty of Medical Laboratory Sciences, University of Karary, Khartoum, Sudan
3- Hematology Department, Faculty of Medical laboratory Sciences, University of Sudan, Khartoum, Sudan
4- El-Emam El-Mahdi University, Khartoum, Sudan
Abstract: (8013 Views)
ABSTRACT
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 restriction-fragment 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.
KEYWORDS: Genotyping, Hemoglobinopathies, Thalassemia, Sickle cell disease, Port 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 restriction-fragment 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.
KEYWORDS: Genotyping, Hemoglobinopathies, Thalassemia, Sickle cell disease, Port Sudan.
Research Article: Original Paper |
Received: 2018/11/17 | Accepted: 2018/11/17 | Published: 2018/11/17 | ePublished: 2018/11/17
Received: 2018/11/17 | Accepted: 2018/11/17 | Published: 2018/11/17 | ePublished: 2018/11/17
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