Transfusion Medicine study with SNP/CNV (Array) data on dbGaP (13,403 participants)

phs001955 — NHLBI Recipient Epidemiology Donor Evaluation Study (REDS)-III - Red    Blood Cell Omics (RBC-Omics) Study

The Recipient Epidemiology and Donor Evaluation Study-III (REDS-III) is an initiative launched by the National Heart, Lung, and Blood Institute (NHLBI) with the goal to improve transfusion medicine practice, ensure safety and reduce risks. Extensive variation exists in donor iron metabolism, hemoglobin production, and hemolysis. Despite this variation, current blood banking guidelines regulating blood donation frequency, donation volume, and storage time and conditions remain uniform for all donors. The RBC-Omics study proposed to investigate if this approach is appropriate. Specifically, the RBC-Omics study: <ol> <li>Established a multi-ethnic cohort of blood donors with well-characterized demographic, behavioral, and donation history.</li> <li>Developed a database linking donations from these blood donors to outcomes in transfusion recipients.</li> <li>Identify genetic factors impacting hemoglobin, donation history, ferritin, and iron metabolism.</li> <li>Identify markers and clinical factors associated with the iron-related disorders pica and restless leg syndrome (RLS).</li> <li>Define the genetic and metabolic basis for donor-specific differences in spontaneous, osmotic and oxidative hemolysis at the end of storage.</li> </ol> RBC-Omics study has 13,403 blood donors over the age of 18 that were recruited from December 2013 to December 2015 at four REDS-III blood centers: the American Red Cross (Farmington, CT), the Institute for Transfusion Medicine (ITxM, Pittsburgh, PA), Blood Center of Wisconsin (Milwaukee, WI), and the Blood Centers of the Pacific (San Francisco, CA). All blood donors are healthy volunteers who passed donation screening and were not anemic. The samples were genotyped with a customized Affymetrix Axiom array called the TM-Array. The TM-array was specifically designed to cover genetic variations related to transfusion medicine. Also copy number polymorphisms in the alpha globin, beta globin and Rh gene clusters were added. The genetic variations among different ethnicity groups were considered as well.