Sickle cell trait (SCT) is unique among the carrier states that are identified during newborn
screening. Unlike other heterozygous states for rare recessive diseases, SCT is exceedingly …

Most loci identified by GWASs have been found in populations of European ancestry (EUR).
In trans-ethnic meta-analyses for 15 hematological traits in 746,667 participants, including …

Importance Sickle cell disease (SCD) is a monogenic disorder, yet clinical outcomes are
influenced by additional genetic factors. Despite decades of research, the genetics of SCD …

Abstract β-thalassemias (β-thal) are a group of blood disorders caused by mutations in the β-
globin gene (HBB) cluster. β-globin associates with α-globin to form adult hemoglobin (HbA …

Genome-wide association studies have revolutionized our understanding of the genetic
underpinnings of cardiometabolic disease. Yet, the inadequate representation of individuals …

Summary Whole-genome sequencing (WGS), a powerful tool for detecting novel coding and
non-coding disease-causing variants, has largely been applied to clinical diagnosis of …

Importance Sickle cell trait (SCT), defined as the presence of 1 hemoglobin beta sickle allele
(rs334-T) and 1 normal beta allele, is prevalent in millions of people in the US, particularly in …

Background Sickle cell trait and sickle cell disease are thought to be independent risk
factors for CKD, but the trajectory and predictors of kidney function decline in patients with …

Individuals with monogenic disorders can experience variable phenotypes that are
influenced by genetic variation. To investigate this in sickle cell disease (SCD), we …

Background α-Globin is expressed in endothelial cells of resistance arteries, where it limits
endothelial nitric oxide signaling and enhances α-adrenergic–mediated vasoconstriction. α …