NHLBI TOPMed: Recipient Epidemiology and Donor Evaluation Study-III Brazil Sickle Cell Disease Cohort (REDS-BSCDC)

Establishing a Brazilian Sickle Cell Disease Cohort and Identifying Molecular Determinants of Response to Transfusions, Genetic Determinants of Alloimmunization, and Risk Factors Associated with HIV Infection. The REDS-III Brazil SCD Cohort study focused on transfusion practices and predictors of health outcomes in patients with Sickle Cell Disease (SCD) and began in the Fall of 2013. The four primary aims of this study are: 1) Aim A - Establish a cohort of SCD patients with a comprehensive centralized electronic database of detailed clinical, laboratory and transfusion information, as well as establish a repository of blood samples to support biological studies relevant to SCD pathogenesis and transfusion complications; 2) Aim B - Characterize changes in markers of inflammation in response to transfusion by analyzing chemokine/cytokine panels in serial post transfusion specimens; 3) Aim C - Identify single nucleotide polymorphisms (SNPs) that contribute to the risk of red blood cell alloimmunization in SCD by performing a genome-wide association (GWA) study in transfused SCD patients; and, 4) Aim D - Characterize risk of HIV and HIV outcomes in the Brazilian SCD population and compare SCD outcomes among HIV sero-positive and sero-negative SCD patients. Patients are enrolled from six hospitals affiliated with the participating four REDS-III Brazil hemocenters.]]>
TOPMed Whole Genome Sequencing Methods: Freeze 8TOPMed Whole Genome Sequencing Methods: Freeze 9Eligible participants classified as adult (≥18 years of age) and pediatric patients (<18 years) were identified by randomly selecting patients with a confirmed diagnosis of sickle cell disease and at least one clinical encounter in the last three years at the 6 REDS-III sites. Stratified random sampling was conducted proportional to the age (<18 or ≥18), gender and SCD genotype distributions of the patients at each hemocenter to ensure the study population was reflective of the SCD population at each site]]>
This study was funded by the NHLBI in March 2013 under the Recipient Epidemiology and Donor Evaluation Study III (REDS III). Whole genome sequencing of the cohort was funded by the NHLBI under the Trans-Omics for Precision Medicine (TOPMed) Program.]]>