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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 between 2013 and 2015. The cohort included slight predominance of children <18 years (55·9%) and females (53·0%). Haemoglobin (Hb) SS was the most common SCD genotype (70·7%), followed by HbSC (23%), Sβ0 (3·0%) and Sβ+ (2·9%). SNP data from the TM Array were analysed to evaluate the genetic ancestry of the cohort and revealed significant admixture among the population. Demographics and clinical complications, stratified by age and SCD genotype, are summarized and future studies in this cohort are discussed.

SUBMITTER: Carneiro-Proietti ABF

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

REPOSITORIES: biostudies-literature

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

Carneiro-Proietti Anna B F ABF Kelly Shannon S Miranda Teixeira Carolina C Sabino Ester C EC Alencar Cecilia S CS Capuani Ligia L Salomon Silva Tassila P TP Araujo Aderson A Loureiro Paula P Máximo Cláudia C Lobo Clarisse C Flor-Park Miriam V MV Rodrigues Daniela O W DOW Mota Rosimere A RA Gonçalez Thelma T TT Hoppe Carolyn C Ferreira João E JE Ozahata Mina M Page Grier P GP Guo Yuelong Y Preiss Liliana R LR Brambilla Donald D Busch Michael P MP Custer Brian B

British journal of haematology 20180719 6

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 comprehensi ...[more]

PMID: 30027669

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Dataset Information

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

Publications

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

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