Hepcidin and iron in health and disease

E Nemeth, T Ganz - Annual review of medicine, 2023 - annualreviews.org
Hepcidin, the iron-regulatory hormone, determines plasma iron concentrations and total
body iron content. Hepcidin, secreted by hepatocytes, functions by controlling the activity of …

Thalassaemia

A Kattamis, JL Kwiatkowski, Y Aydinok - The lancet, 2022 - thelancet.com
Thalassaemia is a diverse group of genetic disorders with a worldwide distribution affecting
globin chain synthesis. The pathogenesis of thalassaemia lies in the unbalanced globin …

Potent and uniform fetal hemoglobin induction via base editing

T Mayuranathan, GA Newby, R Feng, Y Yao… - Nature …, 2023 - nature.com
Inducing fetal hemoglobin (HbF) in red blood cells can alleviate β-thalassemia and sickle
cell disease. We compared five strategies in CD34+ hematopoietic stem and progenitor …

[HTML][HTML] Betibeglogene Autotemcel Gene Therapy for Non–β00 Genotype β-Thalassemia

F Locatelli, AA Thompson, JL Kwiatkowski… - … England Journal of …, 2022 - Mass Medical Soc
Background Betibeglogene autotemcel (beti-cel) gene therapy for transfusion-dependent β-
thalassemia contains autologous CD34+ hematopoietic stem cells and progenitor cells …

Exagamglogene Autotemcel for Transfusion-Dependent β-Thalassemia

F Locatelli, P Lang, D Wall, R Meisel… - … England Journal of …, 2024 - Mass Medical Soc
Background Exagamglogene autotemcel (exa-cel) is a nonviral cell therapy designed to
reactivate fetal hemoglobin synthesis through ex vivo clustered regularly interspaced short …

Iron metabolism in cardiovascular disease: physiology, mechanisms, and therapeutic targets

KT Sawicki, A De Jesus, H Ardehali - Circulation research, 2023 - Am Heart Assoc
The cardiovascular system requires iron to maintain its high energy demands and metabolic
activity. Iron plays a critical role in oxygen transport and storage, mitochondrial function, and …

Epidemiology of clinically significant forms of alpha‐and beta‐thalassemia: A global map of evidence and gaps

KM Musallam, L Lombard, KD Kistler… - American journal of …, 2023 - Wiley Online Library
This systematic literature review assessed the global prevalence and birth prevalence of
clinically significant forms of alpha‐and beta‐thalassemia. Embase, MEDLINE, and the …

Ineffective erythropoiesis and its treatment

M Cazzola - Blood, The Journal of the American Society of …, 2022 - ashpublications.org
The erythroid marrow and circulating red blood cells (RBCs) are the key components of the
human erythron. Abnormalities of the erythron that are responsible for anemia can be …

Luspatercept for the treatment of anaemia in non-transfusion-dependent β-thalassaemia (BEYOND): a phase 2, randomised, double-blind, multicentre, placebo …

AT Taher, MD Cappellini, A Kattamis… - The Lancet …, 2022 - thelancet.com
Background In patients with non-transfusion-dependent β-thalassaemia, haemoglobin
concentrations lower than 10 g/dL are associated with a higher risk of morbidity, mortality …

2021 Thalassaemia international federation guidelines for the management of transfusion-dependent thalassemia

D Farmakis, J Porter, A Taher, MD Cappellini… - …, 2022 - journals.lww.com
Beta-thalassemia and particularly its transfusion-dependent form (TDT) is a demanding
clinical condition, requiring life-long care and follow-up, ideally in specialized centers and by …