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Review
. 2015 Mar-Apr;26(2 Suppl 1):S50-5.
doi: 10.5830/CVJA-2015-040.

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

Ambroise Wonkam  1 , Julie Makani  2 , Solomon Ofori-Aquah  3 , Obiageli E Nnodu  4 , Marsha Treadwell  5 , Charmaine Royal  6 , Kwaku Ohene-Frempong  7 ; Members of the H3Africa Consortium
Affiliations
Review

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

Ambroise Wonkam et al. Cardiovasc J Afr. 2015 Mar-Apr.

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 these cardiovascular conditions have seldom been investigated in Africa.

Conclusions: Several H3Africa projects are focused on cardiovascular diseases and present major opportunities to build genome-based research on existing SCD platforms in Africa to transform the health outcomes of patients.

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