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项目编号 PRJNA472123
项目标题 NHLBI TOPMed: Outcome Modifying Gene in SCD (OMG-SCD)
涉及领域 Medical
数据类型 Phenotype or Genotype
样品范围 Multiisolate
生物名称 Homo sapiens [Taxonomy ID: 9606]
描述信息 Sickle cell disease (SCD) is caused by homozygosity for a single mutation of the beta hemoglobin gene. Despite the constancy of this genetic abnormality, the clinical course of patients with SCD is remarkably variable. SCD can affect the function and cause the failure of multiple organ systems through the pathophysiologic processes of vaso-occlusion and hemolysis. These pathophysiological processes are complex and expected to impact multiple organ systems in a variety of ways. This study, therefore, was designed to identify genetic factors that predispose SCD patients to develop specific end-organ complications and to experience more or less severe clinical courses. We enrolled > 700 patients with Hb SS, Hb S-beta0 thalassemia and HbSC being followed primarily at three southeastern U.S.... (for more see dbGaP study page.)
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提交单位 DUKE UNIVERSITY
数据来源 NCBI

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