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 …

The fetal-to-adult hemoglobin switch and silencing of fetal hemoglobin (HbF) have been
areas of long-standing interest among hematologists, given the fact that clinical induction of …

Genome editing has therapeutic potential for treating genetic diseases and cancer.
However, the currently most practicable approaches rely on the generation of DNA double …

Genome-wide association studies (GWASs) have ascertained numerous trait-associated
common genetic variants, frequently localized to regulatory DNA. We found that common …

The processes that shaped modern European mitochondrial DNA (mtDNA) variation remain
unclear. The initial peopling by Palaeolithic hunter-gatherers~ 42,000 years ago and the …

Non-transfusion-dependent thalassemias include a variety of phenotypes that, unlike
patients with beta (β)-thalassemia major, do not require regular transfusion therapy for …

Thalassaemia is one of the most common genetic diseases worldwide, with at least 60 000
severely affected individuals born every year. Individuals originating from tropical and …

For many complex traits, genetic variants have been found associated. However, it is still
mostly unclear through which downstream mechanism these variants cause these …

Abstract In Southeast Asia α-thalassaemia, β-thalassaemia, haemoglobin (Hb) E and Hb
Constant Spring (CS) are prevalent. The abnormal genes in different combinations lead to …

Genome-wide association studies (GWAS) often identify disease-associated mutations in
intergenic and non-coding regions of the genome. Given the high percentage of the human …