Volume 6, Issue 3, June 2018, Page: 19-25
Polymorphism of the Beta Gene in Homozygous Sickle Cell Patients in Senegal and Its Influence on the Main Complications of the Disease
Dominique Doupa, Department of Medical Biochemistry, Saint-Louis University, Saint-Louis, Senegal
Moustapha Djité, Department of Pharmaceutical Biochemistry, Dakar University, Dakar, Senegal
Pape Matar Kandji, Department of Pharmaceutical Biochemistry, Dakar University, Dakar, Senegal
Demba Makalou, Department of Medical Biochemistry, Saint-Louis University, Saint-Louis, Senegal
Sira Thiam, Department of Medical Biochemistry, Saint-Louis University, Saint-Louis, Senegal
Ousseynou Boye, Department of Medical Biochemistry, Saint-Louis University, Saint-Louis, Senegal
Fatimetou Veten, Department of Molecular Biology, Nouakchott University, Nouakchott, Mauritania
Aminata Lam, Department of Parasitology, Dakar University, Dakar, Senegal
Marie Pierre Diouf, Department of Parasitology, Dakar University, Dakar, Senegal
Arame Ndiaye, Department of Medical Biochemistry, Dakar University, Dakar, Senegal
Blaise Felix Faye, Department of Haematology, Dakar University, Dakar, Senegal
Souleymane Thiam, Department of Medical Biochemistry, Dakar University, Dakar, Senegal
Abdourahmane Samba, Department of Medical Biochemistry, Dakar University, Dakar, Senegal
Fatou Diallo, Department of Medical Biochemistry, Dakar University, Dakar, Senegal
Sidy Mohamed Seck, Department of Medical Biochemistry, Saint-Louis University, Saint-Louis, Senegal
Ahmed Ould Houmeida, Department of Molecular Biology, Nouakchott University, Nouakchott, Mauritania
Papa Madieye Gueye, Department of Pharmaceutical Biochemistry, Dakar University, Dakar, Senegal
Ibrahima Diagne, Department of Medical Biochemistry, Saint-Louis University, Saint-Louis, Senegal
Saliou Diop, Department of Haematology, Dakar University, Dakar, Senegal
Received: Aug. 3, 2018;       Accepted: Sep. 1, 2018;       Published: Sep. 21, 2018
DOI: 10.11648/j.ab.20180603.11      View  1212      Downloads  75
Abstract
Sickle cell disease has a great variability of clinical and biological expression that depends on modulatory and environmental genetic factors. This variability in clinical and biological expression encourages us to look for predictors of severity. Hemoglobin F and its genetic determinants are influencing prognostic factors. The objectives of this study were to: determine the prevalence of the Senegal haplotype in homozygous sickle cell patients, study the relationship between this haplotype and the hemoglobin F level and evaluate its influence on the complications of the disease. This is a cross-sectional prospective study that included 100 homozygous sickle cell patients aged over 15 years. A questionnaire was used to collect epidemiological, clinical and biological variables. The hemoglobin F level was measured by capillary method and the analysis of point mutations by restriction fragment length polymorphism (RFLP). These data were collected and analyzed with the software Epi-info 7.2. A value p ≤ 0.05 was considered significant. The Senegal haplotype was found in 90% of patients, of whom 58% were homozygous for this mutation and 32% were heterozygous. The hemoglobin F level averaged 9.5% ± 8.3% and correlated statistically significantly with the allelic frequency. However, only bilary lithiasis correlated with the Senegal haplotype (p <0.005). This study confirms the homogeneity of the Senegal haplotype in the Senegalese sickle cell population and its influence on the synthesis of hemoglobin F. On the other hand, it revealed the existence of a relationship between the Senegal haplotype and bilary lithiasis suggesting the role of this haplotype in the protection against polymerization and hemolysis globally.
Keywords
Sickle Cell Disease, Haplotypes, β Gene, Senegal
To cite this article
Dominique Doupa, Moustapha Djité, Pape Matar Kandji, Demba Makalou, Sira Thiam, Ousseynou Boye, Fatimetou Veten, Aminata Lam, Marie Pierre Diouf, Arame Ndiaye, Blaise Felix Faye, Souleymane Thiam, Abdourahmane Samba, Fatou Diallo, Sidy Mohamed Seck, Ahmed Ould Houmeida, Papa Madieye Gueye, Ibrahima Diagne, Saliou Diop, Polymorphism of the Beta Gene in Homozygous Sickle Cell Patients in Senegal and Its Influence on the Main Complications of the Disease, Advances in Biochemistry. Vol. 6, No. 3, 2018, pp. 19-25. doi: 10.11648/j.ab.20180603.11
Copyright
Copyright © 2018 Authors retain the copyright of this article.
This article is an open access article distributed under the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Reference
[1]
Pagnier J, Mears JG, Dunda-Belkhodja O, Schaefer-Rego KE, Beldjord C, Nagel RL et al. (1984) Evidence for the multicentric origin of the sickle cell hemoglobin gene in Africa. Proc Natl Acad Sci USA; 81: 1771-3.
[2]
Lai Y, Chen Y, Chen B, Zheng H, Yi S, Li G, et al. (2016) Genetic Variants at BCL11A and HBS1L-MYB loci Influence Hb F Levels in Chinese Zhuang β-Thalassemia Intermedia Patients. Hemoglobin; 40(6): 405‑10.
[3]
Neonato, M. G., M. Guilloud-Bataille, P. Beauvais, P. Begue, M. Belloy, M. Benkerrou, R. Ducrocq, M. Maier-Redelsperger, M. de Montalembert, B. Quinet, J. Elion, J. Feingold and R. Girot (2012) . "Acute clinical events in 299 homozygous sickle cell patients living in France. French Study Group on Sickle Cell Disease." Eur J Haematol; 65(3): 155-164.
[4]
Labie D, Elion J. (2003) Génétique et physiopathologie de la drépanocytose. In «La Drépanocytose». Girot R, Begué P, Galacteros F. John Libbey Eurotext ed, Paris, 1-11.
[5]
Figueiredo MS, Kerbauy J, Gonçalves MS, Arruda VR, Saad ST, Sonati MF et al. (1996) Effect of alpha-thalassemia and beta-globin gene cluster haplotypes on the hematological and clinical features of sickle cell anemia in Brazil. Am J Hematol; 53: 62-72.
[6]
Signorelli AA, Ribeiro SB, Moraes-Souza H, et al. (2013) Pain measurement as part of primary healthcare of adult patients with sickle cell disease. Rev Bras Hematol Hemoter.; 35(4): 272-7.
[7]
Ngo Sack F, Seck M, Faye B, Diop S. (2016) Morbidité et Aspects Evolutifs de la Drépanocytose SC: Une Étude de 129 Patients au Service d’Hématologie Clinique de Dakar. Health Sci. Dis; 17 (4): 58-62.
[8]
Diagne I, Ndiaye O, Moreira C, Signate –Sy H, Camara B. (2000) Les syndromes drépanocytaires majeurs à Dakar (Sénégal) Arch Pédiatr. 7(1): 16-24.
[9]
Habibi, A., Bachir, D., Godeau, B. (2004) "Complication aiguës de la drépanocytose." La Revue du Practicien (54): 1548-1556.
[10]
Sall L, Diop A, Diagne I, Cissé A, Niang MS, Gueye PM, Diarra M. (2004) Apport des récepteurs solubles de la transferrine dans l’évaluation du statut en fer au cours de la drépanocytose homozygote. Ann. Biol. Clin; 62(4): 415-421.
[11]
Girot R. (1997) Drépanocytose chez l’enfant. Encycl Med Chir Pédiatrie 4-080-A-20. Paris: Elsevier.
[12]
Lefevre F. (1999) Hématologie et transfusion. 3ème Edition. Paris: Estem et Med-line.
[13]
Maier-Redelsperger M, Bardakdjian-Michau J, Neonato MG, Girot R Diagnostic biologique des syndromes drépanocytaires In Girot R, Begué P, Galacteros F. (2003) La Drépanocytose. John Libbey Eurotext Ed, Paris, 3-29.
[14]
Conran N, Saad ST, Costa FF, Ikuta T (2007) Leucocyte numbers correlate with plasma levels of granulocyte-macrophage colony-stimulating factor in sickle cell disease. Ann Hematol; 86: 255-61.
[15]
Nagel RL, Fabry ME, Pagnier I, Zohoun I, Waciman H et al. (1993) Haematologically and genetical distinct forms of sickle cell anemia in Africa. The Senegal type and Benin type. N Engl J Med; 312: 880-884.
[16]
Veten MF, Isselmou O. Abdelhamid, Meiloud GM, Sidi M,Ghaber, Salem M, ,Abbes S,.Houmeida AO.( 2012) Hb S [β6 (A3) GLU VAL, GAG GTG] and βglobin gene cluster haplotype distribution in Mauritania Hemoglobin, ISSN: 0363-0269 DOI: 10.3109/03630269.2012.688782.
[17]
Bhagat S, Patra PK, Thakur AS. (2012 ) Association between XmnI Polymorphism and HbF Level in Sickle Cell Disease Patients from Chhattisgarh Int J Biomed Sci. 8(1):36-9.
[18]
Wonkam A, Ngo Bitoungui VJ, Vorster AA, Ramesar R, Cooper RS, Tayo B, et al. (2014) Association of variants at BCL11A and HBS1L-MYB with hemoglobin F and hospitalization rates among sickle cell patients in Cameroon. PloS One.; 9(3):e92506.
[19]
Steinberg MH, Sebastiani P. (2012) Genetic modifiers of sickle cell disease. Am J Hematol.; 87(8):795‑803.
[20]
Seguier LP, Lagausie P, Benchekroum M, Di Napolis AY. (2001) Elective laparoscopic cholecystectomy. Treatment of choice for lithiasis in children with sickle cell disease. Surg Endosc; 15: 301-4.
[21]
Metaxa A, Isatra I, Koussi A. (2002) Lithiase biliaire chez les patients drépanocytaires. Arch pediatr; 8: 878.
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