n Cardiovascular Journal of Africa - Sickle cell disease and H3Africa : enhancing genomic research on cardiovascular diseases in African patients : review article
|Article Title||Sickle cell disease and H3Africa : enhancing genomic research on cardiovascular diseases in African patients : review article|
|© Publisher:||Clinics Cardive Publishing|
|Journal||Cardiovascular Journal of Africa|
|Affiliations||1 University of Cape Town, 2 Muhimbili University of Health and Allied Sciences, Tanzania, 3 University of Pittsburgh, USA, 4 University of Abuja, Nigeria, 5 UCSF Benioff Children's Hospital, USA, 6 Duke University, USA and 7 Children's Hospital of Philadelphia, USA|
|Publication Date||Mar 2015|
|Pages||50 - 55|
|Keyword(s)||Africa, Genetics, Kidney diseases, Pulmonary hypertension, Sickle cell disease and Stroke|
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 single-nucleotide 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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