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Erythropoiesis and the normal red cell 

Erythropoiesis and the normal red cell

Erythropoiesis and the normal red cell

Anna Rita Migliaccio

and Thalia Papayannopoulou



Erythropoiesis – role of the hormone erythroferrone in modulating hepcidin production and thereby iron metabolism, with possible role in iron overload in patients with thalassaemia and sickle cell anaemia.

Myeloproliferative disorders – discussion of newly discovered pathogenic mutations and their therapeutic implications.

Diamond-Blackfan anaemia – loss of function mutations in the GATA-1 gene.

Updated on 30 Jul 2015. The previous version of this content can be found here.
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date: 30 March 2017

Biological mechanisms of erythropoiesis

Erythropoiesis is a highly regulated, multistep process in which stem cells, after a series of amplification divisions, generate multipotential progenitor cells, then oligo- and finally unilineage erythroid progenitors, and then morphologically recognizable erythroid precursors and mature red cells.

Ontogeny of erythropoiesis—this involves a series of well-coordinated events during embryonic and early fetal life: (1) embryo—the fetal yolk sac makes embryonic haemoglobins; (2) fetus—the main site of erythopoiesis is the liver, which initially produces mainly fetal haemoglobin (Hb F, α‎2γ‎2) and a small component (10–15%) of adult haemoglobin (Hb A, α‎2β‎2), with the fraction of HbA rising to about 50% at birth; (3) after birth—the site of erythroid cell production maintained throughout life is the bone marrow, with the final adult erythroid pattern (adult Hb with <1% fetal Hb) being reached a few months after birth.

Regulation of erythropoiesis—the main regulator is erythropoietin, a 33- to 38-kDa sialoglycoprotein that is produced by interstitial cells in the kidney in response to tissue hypoxia and exerts its biological effect by binding to a specific receptor on burst-forming units-erythroid (BFU-e), colony-forming units-erythroid (CFU-e) and proerythroblasts.

Abnormalities of erythroid production

Acquired and congenital defects in erythropoietin production—causes include (1) kidney disease—the main cause of anaemia in chronic kidney disease is deficiency of erythropoietin; some kidney cancers increase erythropoietin production and hence cause secondary erythrocytosis; (2) impaired tissue oxygen delivery—tissue hypoxia is a common cause of secondary erythrocytosis, often caused by chronic lung disease, sometimes by congenital heart anomalies, and rarely by haemoglobin mutations.

Other causes of abnormal erythroid production—these include (1) acquired and congenital defects in erythropoietin signalling; (2) acquired and congenital defects in the transcription factors GATA1 or EKLF, which are required for activation of erythroid-specific genes; (3) acquired or congenital abnormalities in ribosome synthesis or splicing factors (Diamond-Blackfan Anaemia and myelodysplastic syndromes); (4) factors that lead to premature red cell destruction, including inherited defects in protein structure (e.g. hereditary spherocytosis), enzyme defects in metabolic pathways (e.g. pyruvate kinase) and haemoglobin defects (e.g. sickle cell anaemia).

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