Results 21 to 30 of about 826,759 (374)

Base-editing-mediated dissection of a γ-globin cis-regulatory element for the therapeutic reactivation of fetal hemoglobin expression

Nature Communications, 2022
Sickle cell disease and β-thalassemia affect the production of the adult β-hemoglobin chain. The clinical severity is lessened by mutations that cause fetal γ-globin expression in adult life (i.e., the hereditary persistence of fetal hemoglobin ...
P. Antoniou, G. Hardouin, P. Martinucci, G. Frati, T. Felix, A. Chalumeau, L. Fontana, J. Martin, C. Masson, Mégane Brusson, G. Maule, M. Rosello, C. Giovannangeli, V. Abramowski, J. de Villartay, J. Concordet, Filippo Del Bene, W. El Nemer, Mario Amendola, M. Cavazzana, A. Cereseto, Oriana Romano, A. Miccio   +22 more
semanticscholar   +1 more source

The Clinical Approach toward Hereditary Persistence of Fetal Hemoglobin: A Case Report

Iranian Journal of Allergy, Asthma and Immunology, 2022
Fetal hemoglobin is the principal hemoglobin in the human fetus, and the adult levels of fetal hemoglobin (HbF) are less than 1% of total hemoglobin.
Afshin Ghaderi, Tahereh Bakhtiari, Saeid Jokar, Abbas Eshraghi   +3 more
doaj   +1 more source

Candidate sequence variants and fetal hemoglobin in children with sickle cell disease treated with hydroxyurea. [PDF]

PLoS ONE, 2013
Fetal hemoglobin level is a heritable complex trait that strongly correlates swith the clinical severity of sickle cell disease. Only few genetic loci have been identified as robustly associated with fetal hemoglobin in patients with sickle cell disease,
Nancy S Green, Katherine L Ender, Farzana Pashankar, Catherine Driscoll, Patricia J Giardina, Craig A Mullen, Lorraine N Clark, Deepa Manwani, Jennifer Crotty, Sergey Kisselev, Kathleen A Neville, Carolyn Hoppe, Sandra Barral   +12 more
doaj   +1 more source

Sickle cell disease and fetal hemoglobin

Saudi Journal of Medicine and Medical Sciences, 2018
Alicia Rivera
doaj   +3 more sources

Fetal Hemoglobin in Sickle Cell Anemia.

Blood, 2020
Fetal hemoglobin (HbF) can blunt the pathophysiology, temper the clinical course and offer prospects for curative therapy of sickle cell disease. This review focuses on: 1.
M. Steinberg
semanticscholar   +1 more source

Editing a γ-globin repressor binding site restores fetal hemoglobin synthesis and corrects the sickle cell disease phenotype

Science Advances, 2020
Editing the fetal γ-globin promoters in hematopoietic stem cells from sickle cell disease patients induces therapeutic γ-globin levels. Sickle cell disease (SCD) is caused by a single amino acid change in the adult hemoglobin (Hb) β chain that causes Hb ...
Leslie Weber, G. Frati, T. Felix, G. Hardouin, Antonio Casini, Clara Wollenschlaeger, Vasco Meneghini, C. Masson, A. de Cian, A. Chalumeau, F. Mavilio, Mario Amendola, I. André-Schmutz, A. Cereseto, W. El Nemer, J. Concordet, C. Giovannangeli, M. Cavazzana, A. Miccio   +18 more
semanticscholar   +1 more source

Fetomaternal hemorrhage - case report

Journal of Education, Health and Sport, 2022
Maternal fetal leakage (FMH) is a well-known cause of fetal anemia. We define it as the transition of the fetal erythrocytes into the maternal circulation. Its severity is determined by measuring the level of fetal hemoglobin in the mother's blood using
Jakub Gruszka, Anna Zwierzyńska, Magdalena Dolecka-Ślusarczyk, Olga Adamczyk-Gruszka   +3 more
doaj   +1 more source

ZNF410 uniquely activates the NuRD component CHD4 to silence fetal hemoglobin expression

bioRxiv, 2020
Metazoan transcription factors typically regulate large numbers of genes. Here we identify via a CRISPR-Cas9 genetic screen ZNF410, a pentadactyl DNA binding protein that in human erythroid cells directly and measurably activates only one gene, the NuRD ...
Xianjiang Lan, Ren Ren, Ruopeng Feng, Lana C. Ly, Y. Lan, Zhe Zhang, Nicholas G. Aboreden, Kunhua Qin, J. Horton, Jeremy D. Grevet, Thiyagaraj Mayuranathan, O. Abdulmalik, C. Keller, B. Giardine, R. Hardison, M. Crossley, M. Weiss, Xiaodong Cheng, Junwei Shi, G. Blobel   +19 more
semanticscholar   +1 more source

Keeping fetal hemoglobin in the loop [PDF]

Cell Cycle, 2014
Sickle cell disease (SCD) is caused by a point mutation in the adult type β-globin gene. The faulty β-globin chain triggers hemoglobin polymerization, promoting red blood cell sickling. Altered red blood cell shape causes occlusion of small blood vessels, leading to multi-organ damage and limiting life expectancy to 40–50 y of age.
Gerd A. Blobel, Jeremy D. Grevet
openaire   +3 more sources

HRI-regulated transcription factor ATF4 activates BCL11A transcription to silence fetal hemoglobin expression.

Blood, 2020
Reactivation of fetal hemoglobin remains a critical goal in the treatment of patients with sickle cell disease and β-thalassemia. Previously, we discovered that silencing of the fetal γ-globin gene requires the erythroid-specific eIF2α kinase HRI ...
Peng Huang, S. A. Peslak, Xianjiang Lan, Eugene Khandros, Jennifer A. Yano, Malini Sharma, C. Keller, B. Giardine, Kunhua Qin, O. Abdulmalik, R. Hardison, Junwei Shi, G. Blobel   +12 more
semanticscholar   +1 more source