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Hereditary disorders of ineffective erythropoiesis.
Blood Cells Mol Dis
March 2025
Department of Internal Medicine, University of Michigan, Ann Arbor, MI, USA; Department of Cell and Developmental Biology, University of Michigan, Ann Arbor, MI, USA; Cell and Molecular Biology Program, University of Michigan, Ann Arbor, MI, USA; Rogel Cancer Center, University of Michigan, Ann Arbor, MI, USA. Electronic address:
Under steady state conditions, humans must produce ∼2 million red blood cells per second to sustain normal red blood cell counts and hemoglobin levels. Ineffective erythropoiesis, also termed dyserythropoiesis, is a process by which erythroid precursors die or fail to efficiently differentiate in the bone marrow. Ineffective erythropoiesis is characterized by expanded bone marrow erythropoiesis and increased erythroferrone production by bone marrow erythroblasts, with the latter resulting in reduced hepcidin production and increased iron absorption.
View Article and Find Full Text PDFCongenital Dyserythropoietic Anaemia Type II with SEC23B Mutation in Adults: A Case Series.
Indian J Hematol Blood Transfus
January 2025
Department of Clinical Haematology and BMT, Sir Ganga Ram Hospital, Old Rajinder Nagar, New Delhi, 110060 India.
Hematopoietic Stem Cell Transplant of a Congenital Dyserythropoietic Anemia Type II Patient: A Rare Report from the Indian Population.
Indian J Hematol Blood Transfus
January 2025
Department of Haematogenetics, ICMR- National Institute of Immunohaematology, KEM Hospital Campus, 13Th Floor New Multi Storeyed Building, Parel, Mumbai, 400012 India.
Mutant Fam20c knock-in mice recapitulate both lethal and non-lethal human Raine Syndrome.
BMC Mol Cell Biol
January 2025
Department of Stomatology, The First Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang, 150001, China.
Background: Inactivation or mutations of FAM20C causes human Raine Syndrome, which manifests as lethal osteosclerosis bone dysplasia or non-lethal hypophosphatemia rickets. However, it is only hypophosphatemia rickets that was reported in the mice with Fam20c deletion or mutations. To further investigate the local and global impacts of Fam20c mutation, we constructed a knock-in allele carrying Fam20c mutation (D446N) found in the non-lethal Raine Syndrome.
View Article and Find Full Text PDFReduced GATA1 levels are associated with ineffective erythropoiesis in sickle cell anemia.
Haematologica
December 2024
Red Cell Haematology Lab, Comprehensive Cancer Centre, School of Cancer and Pharmaceutical Sciences, King's College London.
Ineffective erythropoiesis (IE) is defined as the abnormal differentiation and excessive destruction of erythroblasts in the marrow, accompanied by an expanded progenitor compartment and relative reduction in the production of reticulocytes. It is a defining feature of many types of anemia, including beta-thalassemia. GATA1 is an essential transcription factor for erythroid differentiation, known to be implicated in hematological conditions presenting with IE, including beta-thalassemia and congenital dyserythropoietic anemia.
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