Although sickle cell anemia (SCA) results from the homozygosity of a single mutation in amino acid 6 of the ²-globin locus, this disease presents high phenotypic heterogeneity, so that different patients may have significantly different clinical outcomes. Vascular occlusion occurs systemically, and transient ischemic attacks, stroke and cerebral hemorrhage affect approximately 25% of patients with SCA. Early identification of patients with sickle cell anemia susceptible to cerebrovascular accident (CVA) could reduce the risk, possibly preventing the recurrence of infarcts and potentially reducing their incidence. Thus, we propose to extend the current sample size with already genotyped data in Children's Hospital of Philadelphia, and also improve the analysis (picking best fitting algorithms for probe calling, population correction, association test, ontology analysis and in silico prediction), concluding with validation method decision to be conducted back in the origin institution. Additionally, we will compare North American and Brazilian sickle cell individuals, for better understanding how a mostly African-origin variant behaves in different levels of admix and what is the clinical impact if any.
News published in Agência FAPESP Newsletter about the scholarship: