title: 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, South Africa. ambroise.wonkam@uct.ac.za.
authors.forename: Ambroise
authors.initials: A
authors.lastname: Wonkam
authors.affiliation: Muhimbili University of Health and Allied Sciences, Dar-Es-Salaam, Tanzania.
authors.forename: Julie
authors.initials: J
authors.lastname: Makani
authors.affiliation: Center for Translational and International Hematology, University of Pittsburgh, Pittsburgh, USA.
authors.forename: Solomon
authors.initials: S
authors.lastname: Ofori-Aquah
authors.affiliation: Department of Haematology and Blood Transfusion, College of Health Sciences, University of Abuja, Abuja, Nigeria/Department of Haematology and Blood Transfusion, University of Abuja Teaching Hospital, Gwagwalada, Abuja, Nigeria.
authors.forename: Obiageli E
authors.initials: OE
authors.lastname: Nnodu
authors.affiliation: Hematology/Oncology Department, UCSF Benioff Children's Hospital, Oakland, USA.
authors.forename: Marsha
authors.initials: M
authors.lastname: Treadwell
authors.affiliation: Department of African and African American Studies, Duke University, Durham, USA.
authors.forename: Charmaine
authors.initials: C
authors.lastname: Royal
authors.affiliation: Children's Hospital of Philadelphia, Comprehensive Sickle Cell Centre, Philadelphia, USA.
authors.forename: Kwaku
authors.initials: K
authors.lastname: Ohene-Frempong
mesh_terms: D000349:Africa; D000755:Anemia, Sickle Cell / Q000453:epidemiology* / Q000235:genetics; D002318:Cardiovascular Diseases / Q000453:epidemiology* / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D015995:Prevalence; D012106:Research