Relationship between biomarkers and stroke risk in sickle cell disease odds in an Amazon folk.

Sickle cell disease (SCD) is defined by important heterogeneity between patients, but this clinical presentation mutability is not well understood. Therefore, this immense phenotypic variability calls for research into risk factors associated with greater chance of developing stroke in a specific population at Amazon forest. This study sought to explore the relationship between genetic markers of inflammatory process and the clinical risk of stroke in people with sickle cell anemia. The authors presented 70 patients (87.5%) were classified in group 1, without a stroke clinic, and 10 patients (12.5%) in group 2, with this clinic. These groups were subdivided in relation to the Doppler examination. Detailed analysis of genetic polymorphisms in specific subgroups revealed that variants in the CYP19A1 and MDM2 genes, in the group of patients without clinical stroke, showed statistical significance, indicating a possible protective effect against the stroke phenotype. Among patients who had a stroke, the variant in the CASP8 gene was statistically significant, suggesting that some genotypes may have a greater effect on the evolution of the stroke in patients with sickle cell anemia. Future studies should seek to include more patients with complete Doppler data and explore other variables that may affect stroke risk.