Wonkam, Ambroise
Overview
| Works: | 7 works in 7 publications in 2 languages and 13 library holdings |
|---|---|
| Roles: | Other, Author, Contributor |
Publication Timeline
.
Most widely held works by
Ambroise Wonkam
Perceptions of parents of children with hearing loss of genetic origin in South Africa by Sinead Amber Gardiner(
)
1 edition published in 2018 in English and held by 2 WorldCat member libraries worldwide
1 edition published in 2018 in English and held by 2 WorldCat member libraries worldwide
Genomic medicine in Africa: promise, problems and prospects by
Ambroise Wonkam(
)
1 edition published in 2014 in English and held by 2 WorldCat member libraries worldwide
1 edition published in 2014 in English and held by 2 WorldCat member libraries worldwide
SAR1a promoter polymorphisms are not associated with fetal hemoglobin in patients with sickle cell disease from Cameroon by Gift Dineo Pule(
)
1 edition published in 2017 in English and held by 2 WorldCat member libraries worldwide
1 edition published in 2017 in English and held by 2 WorldCat member libraries worldwide
Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome by
Ambroise Wonkam(
)
1 edition published in 2013 in English and held by 2 WorldCat member libraries worldwide
1 edition published in 2013 in English and held by 2 WorldCat member libraries worldwide
Sickle cell disease, sickle trait and the risk for venous thromboembolism: a systematic review and meta-analysis by Jean Jacques Noubiap(
)
1 edition published in 2018 in English and held by 2 WorldCat member libraries worldwide
1 edition published in 2018 in English and held by 2 WorldCat member libraries worldwide
Biomedical research, a tool to address the health issues that affect African populations by Emmanuel Peprah(
)
1 edition published in 2013 in English and held by 2 WorldCat member libraries worldwide
1 edition published in 2013 in English and held by 2 WorldCat member libraries worldwide
Drépanocytose et polymorphismes génétiques : épidémiologie, prédiction de gravité et stress-oxydant by
Fatou Gueye(
)
1 edition published in 2019 in French and held by 1 WorldCat member library worldwide
The primary objective of this thesis was to determine the isolated and combined effects of alpha-thalassemia, inductors polymorphisms (QTLs) of HbF and genotype G6PD in a context of natural progression of sickle cell disease (Studies 1 and 2). Study 1 was undertaken to evaluate for the first time the allelic frequencies of these modifiers genes in 301 Senegalese SS children. Unlike other African populations, the G6PD Betica Variant was predominant over the A (-) variant. In addition, 12% of our cohort had G6PD deficiency combined with no alpha-thalassemia. These patients will be favoured for the realization of a transcranial doppler. The results obtained in Study 2 allowed us to conclude that alpha thalassemia and QTLs of HbF are interdependent and should not be studied separately for accurate clinical prediction. Indeed, a combination of alpha thalassemia with at least 2 QTLs of HbF is required to significantly delay the first complication of the disease. However, a homozygous alpha thalassemia, even associated with 3 to 6 QTLs of HbF, increases the frequency of CVOs during childhood. Therefore, a heterozygous alpha-thalassemia with at least two QTL HbFs would be the most favourable genotype for the occurrence of CVOs. The second objective of this thesis was to study the interrelationships between oxidative stress and the clinical severity of the disease (Studies 3 to 4). Sickle cell disease is characterized by high oxidative stress that may explain some of the clinical manifestations. Our results showed that homozygous alpha-thalassemia appears to reduce oxidative stress, which would contribute to its protective effect on certain complications of the hemolytic sub-phenotype. In addition, patients with the least hospitalization and CVO appear to have better antioxidant defense (catalase and GPx activities increased). In Study 4 we studied 4 SNPs of oxidative stress genes (rs4880 of the SOD2 gene, rs207454 of the XO gene, rs233322 of the MPO gene and rs35652124 of the NFE2L2 gene). The rs4880 SNP would have a favourable effect on the biological level (less reticulocytosis, increased GPx activity) but without associated clinical translation. The same is true for rs233322, which is associated with greater haemolysis and oxidative stress (AOPP). On the other hand, a tendency to a protective effect of rs207454 for some complications (hospitalizations, osteonecrosis, sepsis, STA) was observed. Our work contributes to the understanding of the impact of modifiers genes in sickle cell disease. It could therefore, through a positive selection of at-risk patients, improve the management of the disease in countries where the basic treatments (hydroxyurea, transcranial doppler, blood transfusion) cannot be offered to all
1 edition published in 2019 in French and held by 1 WorldCat member library worldwide
The primary objective of this thesis was to determine the isolated and combined effects of alpha-thalassemia, inductors polymorphisms (QTLs) of HbF and genotype G6PD in a context of natural progression of sickle cell disease (Studies 1 and 2). Study 1 was undertaken to evaluate for the first time the allelic frequencies of these modifiers genes in 301 Senegalese SS children. Unlike other African populations, the G6PD Betica Variant was predominant over the A (-) variant. In addition, 12% of our cohort had G6PD deficiency combined with no alpha-thalassemia. These patients will be favoured for the realization of a transcranial doppler. The results obtained in Study 2 allowed us to conclude that alpha thalassemia and QTLs of HbF are interdependent and should not be studied separately for accurate clinical prediction. Indeed, a combination of alpha thalassemia with at least 2 QTLs of HbF is required to significantly delay the first complication of the disease. However, a homozygous alpha thalassemia, even associated with 3 to 6 QTLs of HbF, increases the frequency of CVOs during childhood. Therefore, a heterozygous alpha-thalassemia with at least two QTL HbFs would be the most favourable genotype for the occurrence of CVOs. The second objective of this thesis was to study the interrelationships between oxidative stress and the clinical severity of the disease (Studies 3 to 4). Sickle cell disease is characterized by high oxidative stress that may explain some of the clinical manifestations. Our results showed that homozygous alpha-thalassemia appears to reduce oxidative stress, which would contribute to its protective effect on certain complications of the hemolytic sub-phenotype. In addition, patients with the least hospitalization and CVO appear to have better antioxidant defense (catalase and GPx activities increased). In Study 4 we studied 4 SNPs of oxidative stress genes (rs4880 of the SOD2 gene, rs207454 of the XO gene, rs233322 of the MPO gene and rs35652124 of the NFE2L2 gene). The rs4880 SNP would have a favourable effect on the biological level (less reticulocytosis, increased GPx activity) but without associated clinical translation. The same is true for rs233322, which is associated with greater haemolysis and oxidative stress (AOPP). On the other hand, a tendency to a protective effect of rs207454 for some complications (hospitalizations, osteonecrosis, sepsis, STA) was observed. Our work contributes to the understanding of the impact of modifiers genes in sickle cell disease. It could therefore, through a positive selection of at-risk patients, improve the management of the disease in countries where the basic treatments (hydroxyurea, transcranial doppler, blood transfusion) cannot be offered to all
Audience Level
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