Pathogenic BCL11A variants provide insights into the mechanisms of human fetal hemoglobin silencing.

Increased production of fetal hemoglobin (HbF) can ameliorate the severity of sickle cell disease and β-thalassemia. BCL11A has been identified as a key regulator of HbF silencing, although its precise mechanisms of action remain incompletely understood. Recent studies have identified pathogenic mutations that cause heterozygous loss-of-function of BCL11A and result in a distinct neurodevelopmental disorder that is characterized by persistent HbF expression.

Control of human hemoglobin switching by LIN28B-mediated regulation of BCL11A translation.

Increased production of fetal hemoglobin (HbF) can ameliorate the severity of sickle cell disease and β-thalassemia. BCL11A represses the genes encoding HbF and regulates human hemoglobin switching through variation in its expression during development. However, the mechanisms underlying the developmental expression of BCL11A remain mysterious.

A chance to cut (the genome) is a chance to cure.

In this issue of Antoniani et al identify an innovative genome editing approach to induce fetal hemoglobin (HbF), which may eventually lead to therapeutic strategies for ameliorating or curing sickle-cell disease (SCD) and β-thalassemia.

Health literacy, health-related quality of life, and atrial fbrillation.

Atrial fbrillation (AF) is a chronic heart rhythm disorder associated with significant adverse outcomes. Health-related quality of life (HRQoL) is an established metric of health status in individuals with AF, and health literacy is highly relevant to how individuals experience HRQoL. We conducted a pilot investigation to examine the association of health literacy and health related quality of life (HRQoL) in a limited-sized cohort of individuals with AF, all of whom had AF and were ≥60 years old.