Sickle Cell Community

Aug 23, 2022

The Sickle Cell Disease Community, an initiative led by St. Jude Children’s Research Hospital, shares whole genome sequencing data and clinical data with research and clinical communities. Our goal is to promote global collaborative efforts to identify genetic modifiers of sickle cell disease complications, improve clinical management for patients, and develop more effective treatments.

Genetic Composition: Plot of ethnic subpopulations most closely resembled by individuals in the aggregated St. Jude and Baylor College of Medicine cohorts. The majority of participants are African American and have a mixed genetic background of European white (CEU) and African subpopulations (YRI). Plots are generated from genetic data using principal components analysis (PCA). PC1 = principal component 1; PC2 = principal component 2. Explore the genetic compositions by changing different PCs and subpopulations.
Hematological Traits: Blood phenotype values for total hemoglobin (Hb), fetal hemoglobin (HbF), hemoglobin A2 (HbA2) and the mean corpuscular volume (MCV) were plotted against age of individual participants at the time of measurement. These interactive plots include points for individual patients and regression lines for the mean and +/- one and two standard deviations (sd) for the value being plotted.
Kidney Damage: Kaplan-Meier curves showing an earlier age of albuminuria diagnosis for sickle cell patients with the high-risk APOL1 genetic model compared to sickle cell patients without the high-risk genetic model. The high-risk genetic model is defined as either (1) containing one risk allele for rs73885319-G/rs60910145-G and one risk allele for rs71785313-delTTATAA or (2) having two copies of the risk allele of either the rs73885319-G/rs60910145-G variant or the rs71785313-delTTATAA variant.