Clinical and Genetic Ancestry Profile of a Large Multi-centre Sickle Cell Disease Cohort in Brazil

Overview

Journal Br J Haematol

Specialty Hematology

Date 2018 Jul 21

PMID 30027669

Citations 23

Authors

Anna B F Carneiro-Proietti

Shannon Kelly

Carolina Miranda Teixeira

Ester C Sabino

Cecilia S Alencar

Ligia Capuani

Tassila P Salomon Silva

Aderson Araujo

Paula Loureiro

Claudia Maximo

Clarisse Lobo

Miriam V Flor-Park

Daniela O W Rodrigues

Rosimere A Mota

Thelma T Goncalez

Carolyn Hoppe

Joao E Ferreira

Mina Ozahata

Grier P Page

Yuelong Guo

Liliana R Preiss

Donald Brambilla

Michael P Busch

Brian Custer

Affiliations

Soon will be listed here.

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.

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