Clinical and genetic ancestry profile of a large multi-centre sickle cell disease cohort in Brazil.

ABSTRACT: Approximately 3500 children with sickle cell disease (SCD) are born in Brazil each year, but the burden of SCD morbidity is not fully characterised. A large, multi-centre cohort was established to characterise clinical outcomes in the Brazilian SCD population and create the infrastructure to perform genotype-phenotype association studies. Eligible patients were randomly selected from participating sites and recruited at routine visits. A biorepository of blood samples was created and comprehensive demographic and clinical outcome data were entered in a centralized electronic database. Peripheral blood genome-wide single nucleotide polymorphism (SNP) genotyping was performed using a customized Transfusion Medicine (TM) Array. A total of 2795 participants at six Brazilian sites were enrolled

SUBMITTER: Carneiro-Proietti ABF 

PROVIDER: S-EPMC8019534 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature