Sickle cell disease and H3Africa: enhancing genomic research on cardiovascular diseases in African patients.

ABSTRACT:

Background

Sickle cell disease (SCD) has a high prevalence in sub-Saharan Africa. There are several cardiovascular phenotypes in SCD that contribute to its morbidity and mortality.

Discussion

SCD is characterised by marked clinical variability, with genetic factors playing key modulating roles. Studies in Tanzania and Cameroon have reported that singlenucleotide polymorphisms in BCL11A and HBS1L-MYB loci and co-inheritance of alpha-thalassaemia impact on foetal haemoglobin levels and clinical severity. The prevalence of overt stroke among SCD patients in Cameroon (6.7%) and Nigeria (8.7%) suggests a higher burden than in high-income countries. There is also some evidence of high burden of kidney disease and pulmonary hypertension in SCD; however, the burden and genetics of t

SUBMITTER: Wonkam A 

PROVIDER: S-EPMC4547555 | biostudies-literature | 2015 Mar-Apr

REPOSITORIES: biostudies-literature