Sickle cell

Human Genetic Factors

Human genetic factors, anaemia and iron studies
The study of human genetic factors and susceptibility to malaria and other diseases forms a major area of our research in Kilifi.  Using case-control, cohort and functional studies we explore the role of candidate genes including haemoglobin S, Glucose-6-phosphate dehydrogenase deficiency, alpha-thalassaemia, haptoglobin variants and complement receptor 1 in protection against malaria in the population of Kilifi.  We also investigate mechanisms by which such traits result in malaria protection and their interactions with one another. The proportion of variability in the risk of uncomplicated clinical malaria that is attributable to genetic and other factors (from Mackinnon and colleagues, PLoS Medicine, 2, 12, e340)

We are also studying the natural history of inherited red cell disorders, particularly sickle cell disease, among children admitted to Kilifi District Hospital in terms of (a) all-cause mortality, and (b) rates of admission with malaria, invasive bacterial diseases and other specific diseases. In collaboration with colleagues in the KEMRI-CDC Programme in Kisumu, we have extended these studies to include cohorts of children in Western Kenya

Investigators : Investigators: Tom Williams, Sophie Uyoga, Alex Macharia, Oscar Nyangiri, Caroline Ndila, Sarah Atkinson