Publication Date: 2023/12/30
Abstract: Sickle cell disease is a major health concern worldwide, and particularly In Sub-Saharan Region where Gabon lies. This disease causes considerable damage to individuals and society. Molecular diagnosis of the Sickle cell disease, genetic counseling and family studies of patients, are becoming important parameters for patient management. In this work, in addition to setting up a decision tree for the diagnosis of sickle cell disease in Gabon and determining the prevalence of this disease in the South-East zone, we are developing a molecular analysis procedure with the aim of carrying out molecular screening for sickle cell disease at CIRMF. Screening of 235 children aged 0 to 19 using the sickle cell rapid Sickle Cell Scan test showed that 17.81% of the population were sickle cell positive. The results of this study also show a high proportion of sickle-cell-affected children under 10 years of age (79.42%). There are conflicting results requiring molecular analysis. This work has also made it possible to set up a molecular analysis protocol that can serve as a basis for molecular diagnosis, with the aim of confirming the results of phenotypic analyses of people with sickle cell disease in Gabon. It also opens the way to prenatal diagnosis of sickle-cell anemia for couples in a country where 21% of the population carries the sickle-cell trait, an argument in favor of training couples at risk in this central African country.
Keywords: Sickle Cell Disease, DNA, Hemoglobin, PCR, Enzymatic Digestion, Diagnosis, Gabon
DOI: https://doi.org/10.5281/zenodo.10443819
PDF: https://ijirst.demo4.arinfotech.co/assets/upload/files/IJISRT23DEC1405.pdf
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