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Sudden Death in Sickle Cell Disease: An Assessment of Risk Factors
ConclusionOur results suggest that ACS and priapism may be indicative of a high risk of sudden death in patients with SCD. Our data are preliminary and need to be further investigated using a larger cohort of patients, as well as exploring the prevalence of these factors in SCD patients who are not yet deceased.DisclosuresAchebe: Bluebird Bio: Consultancy; AMAG Pharmaceuticals: Other: Advisory Board; Luitpold pharmaceuticals: Consultancy.
Source: Blood - November 21, 2018 Category: Hematology Authors: Nze, C., Fortin, B. M., Freedman, R., Puligandla, M., Neuberg, D. S., Mandell, E., Achebe, M. Tags: 114. Hemoglobinopathies, Excluding Thalassemia-Clinical Source Type: research

Identification of unique venous thromboembolism-susceptibility variants in African-Americans.
Abstract To identify novel single nucleotide polymorphisms (SNPs) associated with venous thromboembolism (VTE) in African-Americans (AAs), we performed a genome-wide association study (GWAS) of VTE in AAs using the Electronic Medical Records and Genomics (eMERGE) Network, comprised of seven sites each with DNA biobanks (total ~39,200 unique DNA samples) with genome-wide SNP data (imputed to 1000 Genomes Project cosmopolitan reference panel) and linked to electronic health records (EHRs). Using a validated EHR-driven phenotype extraction algorithm, we identified VTE cases and controls and tested for an association ...
Source: Thrombosis and Haemostasis - February 15, 2017 Category: Hematology Authors: Heit JA, Armasu SM, McCauley BM, Kullo IJ, Sicotte H, Pathak J, Chute CG, Gottesman O, Bottinger EP, Denny JC, Roden DM, Li R, Ritchie MD, de Andrade M Tags: Thromb Haemost Source Type: research