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 |
Sickle Cell Disease, Haplotypes, β Gene, Senegal
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APA Style
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
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
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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Download@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}
}
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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