This year marks the tenth anniversary of cell therapy with chimeric antigen receptor (CAR)-
modified T cells for refractory leukemia. The widespread commercial approval of genetically …

Background Haemoglobinopathies constitute the commonest recessive monogenic
disorders worldwide, and the treatment of affected individuals presents a substantial global …

The remarkable phenotypic diversity of β thalassemia that range from severe anemia and
transfusion-dependency, to a clinically asymptomatic state exemplifies how a spectrum of …

Diseases affecting hemoglobin synthesis and function are extremely common worldwide.
More than 1000 naturally occurring human hemoglobin variants with single amino acid …

The thalassemias can be defined as α‐or β‐thalassemias depending on the defective globin
chain and on the underlying molecular defects. The recognition of carriers is possible by …

Enhancers are cis-regulatory elements that enable precise spatiotemporal patterns of gene
expression during development and are notable for being able to function at large distances …

The aim of the study was to assess the clinical utility of a third-generation sequencing (TGS)
approach termed comprehensive analysis of thalassemia alleles (CATSA) for identifying …

The human genetic factors that affect resistance to infectious disease are poorly understood.
Here we report a genome-wide association study in 17,000 severe malaria cases and …

Fasting plasma glucose (FPG) and hemoglobin A1c (HbA1c) are both used to diagnose
diabetes, but these measurements can identify different people as having diabetes. We used …

Hemoglobinopathies are among the most common autosomal-recessive disorders
worldwide. A comprehensive next-generation sequencing (NGS) test would greatly facilitate …