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Polymorphism of the Beta Gene in Homozygous Sickle Cell Patients in Senegal and Its Influence on the Main Complications of the Disease

Received: 3 August 2018     Accepted: 1 September 2018     Published: 21 September 2018
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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.

Published in Advances in Biochemistry (Volume 6, Issue 3)
DOI 10.11648/j.ab.20180603.11
Page(s) 19-25
Creative Commons

This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.

Copyright

Copyright © The Author(s), 2018. Published by Science Publishing Group

Keywords

Sickle Cell Disease, Haplotypes, β Gene, Senegal

References
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[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.
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    Dominique Doupa, Moustapha Djité, Pape Matar Kandji, Demba Makalou, Sira Thiam, et al. (2018). 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, 6(3), 19-25. https://doi.org/10.11648/j.ab.20180603.11

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    ACS Style

    Dominique Doupa; Moustapha Djité; Pape Matar Kandji; Demba Makalou; Sira Thiam, et al. Polymorphism of the Beta Gene in Homozygous Sickle Cell Patients in Senegal and Its Influence on the Main Complications of the Disease. Adv. Biochem. 2018, 6(3), 19-25. doi: 10.11648/j.ab.20180603.11

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    AMA Style

    Dominique Doupa, Moustapha Djité, Pape Matar Kandji, Demba Makalou, Sira Thiam, et al. Polymorphism of the Beta Gene in Homozygous Sickle Cell Patients in Senegal and Its Influence on the Main Complications of the Disease. Adv Biochem. 2018;6(3):19-25. doi: 10.11648/j.ab.20180603.11

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  • @article{10.11648/j.ab.20180603.11,
      author = {Dominique Doupa and Moustapha Djité and Pape Matar Kandji and Demba Makalou and Sira Thiam and Ousseynou Boye and Fatimetou Veten and Aminata Lam and Marie Pierre Diouf and Arame Ndiaye and Blaise Felix Faye and Souleymane Thiam and Abdourahmane Samba and Fatou Diallo and Sidy Mohamed Seck and Ahmed Ould Houmeida and Papa Madieye Gueye and Ibrahima Diagne and Saliou Diop},
      title = {Polymorphism of the Beta Gene in Homozygous Sickle Cell Patients in Senegal and Its Influence on the Main Complications of the Disease},
      journal = {Advances in Biochemistry},
      volume = {6},
      number = {3},
      pages = {19-25},
      doi = {10.11648/j.ab.20180603.11},
      url = {https://doi.org/10.11648/j.ab.20180603.11},
      eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ab.20180603.11},
      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.},
     year = {2018}
    }
    

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  • TY  - JOUR
    T1  - Polymorphism of the Beta Gene in Homozygous Sickle Cell Patients in Senegal and Its Influence on the Main Complications of the Disease
    AU  - Dominique Doupa
    AU  - Moustapha Djité
    AU  - Pape Matar Kandji
    AU  - Demba Makalou
    AU  - Sira Thiam
    AU  - Ousseynou Boye
    AU  - Fatimetou Veten
    AU  - Aminata Lam
    AU  - Marie Pierre Diouf
    AU  - Arame Ndiaye
    AU  - Blaise Felix Faye
    AU  - Souleymane Thiam
    AU  - Abdourahmane Samba
    AU  - Fatou Diallo
    AU  - Sidy Mohamed Seck
    AU  - Ahmed Ould Houmeida
    AU  - Papa Madieye Gueye
    AU  - Ibrahima Diagne
    AU  - Saliou Diop
    Y1  - 2018/09/21
    PY  - 2018
    N1  - https://doi.org/10.11648/j.ab.20180603.11
    DO  - 10.11648/j.ab.20180603.11
    T2  - Advances in Biochemistry
    JF  - Advances in Biochemistry
    JO  - Advances in Biochemistry
    SP  - 19
    EP  - 25
    PB  - Science Publishing Group
    SN  - 2329-0862
    UR  - https://doi.org/10.11648/j.ab.20180603.11
    AB  - 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.
    VL  - 6
    IS  - 3
    ER  - 

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Author Information
  • Department of Medical Biochemistry, Saint-Louis University, Saint-Louis, Senegal

  • Department of Pharmaceutical Biochemistry, Dakar University, Dakar, Senegal

  • Department of Pharmaceutical Biochemistry, Dakar University, Dakar, Senegal

  • Department of Medical Biochemistry, Saint-Louis University, Saint-Louis, Senegal

  • Department of Medical Biochemistry, Saint-Louis University, Saint-Louis, Senegal

  • Department of Medical Biochemistry, Saint-Louis University, Saint-Louis, Senegal

  • Department of Molecular Biology, Nouakchott University, Nouakchott, Mauritania

  • Department of Parasitology, Dakar University, Dakar, Senegal

  • Department of Parasitology, Dakar University, Dakar, Senegal

  • Department of Medical Biochemistry, Dakar University, Dakar, Senegal

  • Department of Haematology, Dakar University, Dakar, Senegal

  • Department of Medical Biochemistry, Dakar University, Dakar, Senegal

  • Department of Medical Biochemistry, Dakar University, Dakar, Senegal

  • Department of Medical Biochemistry, Dakar University, Dakar, Senegal

  • Department of Medical Biochemistry, Saint-Louis University, Saint-Louis, Senegal

  • Department of Molecular Biology, Nouakchott University, Nouakchott, Mauritania

  • Department of Pharmaceutical Biochemistry, Dakar University, Dakar, Senegal

  • Department of Medical Biochemistry, Saint-Louis University, Saint-Louis, Senegal

  • Department of Haematology, Dakar University, Dakar, Senegal

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