Thalassaemia
Inherited haemoglobin disorders, including thalassaemia and sickle-cell disease, are the
most common monogenic diseases worldwide. Several clinical forms of α-thalassaemia and …
most common monogenic diseases worldwide. Several clinical forms of α-thalassaemia and …
DNA damage: from threat to treatment
A Carusillo, C Mussolino - Cells, 2020 - mdpi.com
DNA is the source of genetic information, and preserving its integrity is essential in order to
sustain life. The genome is continuously threatened by different types of DNA lesions, such …
sustain life. The genome is continuously threatened by different types of DNA lesions, such …
[HTML][HTML] CRISPR-Cas9 gene editing for sickle cell disease and β-thalassemia
Transfusion-dependent β-thalassemia (TDT) and sickle cell disease (SCD) are severe
monogenic diseases with severe and potentially life-threatening manifestations. BCL11A is …
monogenic diseases with severe and potentially life-threatening manifestations. BCL11A is …
CRISPR–Cas9-mediated gene editing of the BCL11A enhancer for pediatric β0/β0 transfusion-dependent β-thalassemia
B Fu, J Liao, S Chen, W Li, Q Wang, J Hu, F Yang… - Nature medicine, 2022 - nature.com
Gene editing to disrupt the GATA1-binding site at the+ 58 BCL11A erythroid enhancer could
induce γ-globin expression, which is a promising therapeutic strategy to alleviate β …
induce γ-globin expression, which is a promising therapeutic strategy to alleviate β …
Ex vivo prime editing of patient haematopoietic stem cells rescues sickle-cell disease phenotypes after engraftment in mice
Sickle-cell disease (SCD) is caused by an A· T-to-T· A transversion mutation in the β-globin
gene (HBB). Here we show that prime editing can correct the SCD allele (HBB S) to wild …
gene (HBB). Here we show that prime editing can correct the SCD allele (HBB S) to wild …
[HTML][HTML] Massively parallel base editing to map variant effects in human hematopoiesis
Systematic evaluation of the impact of genetic variants is critical for the study and treatment
of human physiology and disease. While specific mutations can be introduced by genome …
of human physiology and disease. While specific mutations can be introduced by genome …
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 …
reactivate fetal hemoglobin synthesis through ex vivo clustered regularly interspaced short …
Exagamglogene Autotemcel for Severe Sickle Cell Disease
Background Exagamglogene autotemcel (exa-cel) is a nonviral cell therapy designed to
reactivate fetal hemoglobin synthesis by means of ex vivo clustered regularly interspaced …
reactivate fetal hemoglobin synthesis by means of ex vivo clustered regularly interspaced …
Erythropoiesis: development and differentiation
E Dzierzak, S Philipsen - Cold Spring …, 2013 - perspectivesinmedicine.cshlp.org
Through their oxygen delivery function, red blood cells are pivotal to the healthy existence of
all vertebrate organisms. These cells are required during all stages of life—embryonic, fetal …
all vertebrate organisms. These cells are required during all stages of life—embryonic, fetal …
[HTML][HTML] Molecular basis of α-thalassemia
S Farashi, CL Harteveld - Blood Cells, Molecules, and Diseases, 2018 - Elsevier
Abstract α-Thalassemia is an inherited, autosomal recessive, disorder characterized by a
microcytic hypochromic anemia. It is one of the most common monogenic gene disorders in …
microcytic hypochromic anemia. It is one of the most common monogenic gene disorders in …