For over 100 years, clinicians and scientists have been unravelling the consequences of the
A to T substitution in the β-globin gene that produces haemoglobin S, which leads to the …

Sickle cell disease is a common and life-threatening haematological disorder that affects
millions of people worldwide. Abnormal sickle-shaped erythrocytes disrupt blood flow in …

Translation of the CRISPR–Cas9 system to human therapeutics holds high promise.
However, specificity remains a concern especially when modifying stem cell populations …

Sickle cell disease (SCD) is the most common serious monogenic disease with 300,000
births annually worldwide. SCD is an autosomal recessive disease resulting from a single …

The β-haemoglobinopathies, such as sickle cell disease and β-thalassaemia, are caused by
mutations in the β-globin (HBB) gene and affect millions of people worldwide. Ex vivo gene …

Erythropoiesis is a tightly-regulated and complex process originating in the bone marrow
from a multipotent stem cell and terminating in a mature, enucleated erythrocyte. Altered red …

Abstract β-Thalassemia pathology is due not only to loss of β-globin (HBB), but also to
erythrotoxic accumulation and aggregation of the β-globin-binding partner, α-globin …

Increasing fetal hemoglobin (HbF) levels in adult red blood cells provides clinical benefit to
patients with sickle cell disease and some forms of β-thalassemia. To identify potentially …

Sickle cell disease afflicts millions of people worldwide and approximately 100,000
Americans. Complications are myriad and arise as a result of complex pathological …

As essential components of hemoglobin, iron and heme play central roles in terminal
erythropoiesis. The impairment of this process in iron/heme deficiency results in microcytic …