Wed, Apr 24, 2024
Volume 12, Issue 6 (Nov - Dec 2018)
mljgoums 2018, 12(6): 40-45 |
Back to browse issues page
Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:
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: (7676 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
References
1. Bain BJ, Bates I, Laffan MA, Lewis SM. Dacie and Lewis Practical Haematology. 11th ed. UK: Elsevier Churchill Livingstone. 2012; 301-330.
2. Dassanayake RS, Mahadevan K, Gunawardene Y. Development of single-strand conformational polymorphism to screen for mutations in hotspot regions of Beta-globin gene of Beta-thalassaemia patients of Sri Lanka. SoutheaSt aSian. J trop Med public health. 2013; 44(1): 115-125.
3. Parker JN, Parker PM. Beta Thalassaemia. ICON Group International, Inc. USA. 2007; 3-17.
4. Abbas MY. Haematological parameters in Sudanese children with sickle cell disease. American Journal of Research Communication. 2014; 2(2): 20-32.
5. Sabahelzain MM, Hamamy H. The ethnic distribution of sickle cell disease in Sudan. Pan African medical Journal. 2014; 18: 13 doi:10.11604/pamj.2014.18.13.3280. [DOI:10.11604/pamj.2014.18.13.3280]
6. Hoffbrand AV, Catovsky D, Edward GD. Postgraduate haematology. 5th ed, Volume 1. United Kingdom, Blackwell publishing. 2005; 85-103. [DOI:10.1002/9780470987056]
7. Eltayb HN, El Amin NM, Mukhtar MM, Salih MA, Siddig MAM. Molecular Characterization and in Silico Analysis of a Novel Mutation in TEM-1 Beta-Lactamase gene among Pathogenic E. coli infecting a Sudanese patient. American Journal of Microbiological Research. 2014; 2(6): 217-223. DOI: 10.12691/ajmr-2-6-8} [DOI:10.12691/ajmr-2-6-8]
8. Dereeper A, Guignon V, Blanc G, Audic S, Buffet S, Chevenet F, et al. Phylogeny.fr: robust phylogenetic analysis for the non-specialist. Nucleic Acids Res. 2008; 36(Web Server issue):W465-9. doi: 10.1093/nar/gkn180. [DOI:10.1093/nar/gkn180]
9. Dereeper A, Audic S, Claverie JM, Blanc G. BLAST-EXPLORER helps you building datasets for phylogenetic analysis. BMC Evol Biol. 2010; 10: 8. [DOI:10.1186/1471-2148-10-8]
10. Angastiniotis M, Modell B, Englezos P, Bouleyjenkov V. Prevention and control of haemoglobinopathies. Bulletin of the World organization. 1995; 73(3): 375-386.
11. Bain JB. Haemoglobinopathy Diagnosis. 2nd ed. Oxford UK: Blackwell publishing. 2006; 70: 223. [DOI:10.1002/9780470988787]
12. Elderdery AY, Abozer Y, Mohamed BA, AL- Mijalli SH, Mills J. First recorded case of haemoglobin SC in Sudan. licensee Herbert Publications Ltd. Hematology and Leukemia. 2014. doi: 10.7243/2052-434X-2-2 [DOI:10.7243/2052-434X-2-2]
13. Elderdery, Abozer Y, Mohamed BA, Cooper AJ, Knight G, Mills J. Tribal distribution of Haemoglobinopathies in a Sudanese patient population. J Med Lab Diag. 2011; 2(4): 31-37.
14. Munsoor MM, Afaf A. SCT Among relatives of Sickle cell patients in Western Sudan. Can J of Med. 2011; 2 (2): 20-26.
15. Elderdery AY, Mohamed BA, Karsani ME, Ahmed MH, Knight G, Cooper AJ. Hemoglobinopathies in the Sudan. Hemoglobin. 2008; 32(3): 323-6. doi: 10.1080/03630260802004509. [DOI:10.1080/03630260802004509]
16. Elderdery AY, Mills J, Mohamed BA, Cooper AJ, Mohammed AO, Eltieb N, et al. Molecular analysis of the beta-globin gene cluster haplotypes in a Sudanese population with sickle cell anaemia. Int J Lab Hematol. 2012; 34(3): 262-6. doi: 10.1111/j.1751-553X.2011.01388.x. [DOI:10.1111/j.1751-553X.2011.01388.x]
17. Podhorodecka AK, Knap OM, Parczewski M, Kuleta AB, Ciechanowicz A. Sickle cell anaemia-associated Beta-globin mutation in Shagia and Manasir tribes from Sudan. Pol J of Environ. 2011; 20(6): 1225-1530.
18. Kolita TP. Guidelines for the diagnosis of the haemoglobinopathies in Nigeria. Ann Ibadan Postgrad Med. 2010; 8(1): 25.
19. Lewis SM, Bain BJ, Bates I. Practical Hematology. 10th ed. United Kingdom: Church hill Livingstone. 2006; 272-303.
20. Elgari MM, Ahmed HA, Younis MS, Waggiallah HA. Hematological Characteristics in Sudanese adult with sickle cell disease in Khartoum state. J Am Sci. 2014; 10(8): 8-11.
| Rights and permissions | |
 |
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. |
Enamad
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.