Authors :
Lucrèce M. Délicat-Loembet; Fiacre-Gilles Ndiba-Mondjo; Christiane Atteke
Volume/Issue :
Volume 8 - 2023, Issue 12 - December
Google Scholar :
http://tinyurl.com/myvyrztj
Scribd :
http://tinyurl.com/j4w4nj6y
DOI :
https://doi.org/10.5281/zenodo.10443819
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
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
