Combined effects of modifier genes on sickle cell nephropathy

Published: 25 October 2021| Version 1 | DOI: 10.17632/hvzbpdbv9g.1
El Hadji Malick Ndour


Modifier genes could have an effect on sickle cell nephropathy. Patient recruitment was carried out from January 1 to August 31, 2019 at the «Centre National de Transfusion Sanguine» (CNTS) in Dakar, Senegal's reference center for the care of adults living with SCD, and at the «Unité de Soins Ambulatoires des enfants et adolescents atteints de Drépanocytose» (USAD) located at the «Centre Hospitalier National d’Enfants Albert Royer (CHNEAR)» in Dakar, the Senegal’s reference center for the care of children and adolescents living with SCD. The data shows that : Senegal haplotype is the most prevalent haplotype in Senegalese living with sickle cell anemia. Senegal haplotype, BCL11A-rs4671393 variant, alpha-thalassemia (3.7kb HBA1/HBA2 deletion), NPRL3-rs11248850 variant are protective factors against albuminuria stade A2 in sickle cell anemia. Combining alpha-thalassemia (3.7kb HBA1/HBA2 deletion) and NPRL3-rs11248850 variant expose patients living with sickle cell anemia to glomerular hyperfiltration. Microglucosuria is prevalent in patients living with SCA because of pronounced hemolysis. It could be use as a relevant biomarkers of kidney dysfunction in patients living with SCA.



Universite Cheikh Anta Diop


Biochemistry, Genetics, Molecular Biology, Hematology, Kidney Disorder