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OMICS. 2016 Oct;20(10):581-592.

Genetics of Sickle Cell-Associated Cardiovascular Disease: An Expert Review with Lessons Learned in Africa.

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1 Division of Human Genetics, Departments of Medicine and Pathology, Faculty of Health Sciences, University of Cape Town , Cape Town, South Africa .
2 Department of Paediatrics, Faculty of Medicine and Biomedical Sciences, University of Yaoundé , Yaoundé, Cameroon .
3 Department of Hematology, Faculty of Medicine and Biomedical Sciences, University of Yaoundé , Yaoundé, Cameroon .


Sickle cell disease (SCD) vastly impacts the African continent and is associated with cardiovascular diseases. Stroke, kidney disease, and pulmonary hypertension are considered as proxies of severity in SCD with several genomic loci implicated in their heritability. The present expert review examined the current data on epidemiology and genetic risk factors of stroke, pulmonary hypertension, and kidney disease associated with SCD, as indexed in PubMed® and Google Scholar®. Studies collectively show that stroke and kidney disease each affect ∼10% of SCD patients, with pulmonary hypertension displaying a higher prevalence of 30% among adults with SCD. There is some evidence that these epidemiology figures may be an underestimate in SCD patients living in Africa. A modest number of publications have identified genetic factors involved in pathways regulating inflammation, coagulation, cell adhesion, heme degradation, α-globin and γ-globin production, and others, which contribute to the development risk of targeted cardiovascular phenotypes. However, in most cases, these studies have not been validated across populations. There is therefore an urgent need for large-scale genome-wide association, whole-exome and whole-genome studies, and multiomics research on cardiovascular diseases associated with SCD, particularly in Africa, to allow for proportional investment of global research funding on diseases that greatly impact the African continent. Ultimately, this will cultivate socially responsible research investments and identification of at-risk individuals with improved preventive medicine, which should be a cornerstone of global precision medicine.


Africa; global precision medicine; kidney disease; pulmonary hypertension; sickle cell disease; stroke

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