Hereditary disorders of ineffective erythropoiesis.

Richard A King, Rami Khoriaty

Journal: Blood cells, molecules & diseases 2025;111():102910

PMID: 39938185

Full Text on Elsevier Science View on PubMed

Abstract

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. Ineffective erythropoiesis may result from acquired and congenital conditions. Inherited causes of ineffective erythropoiesis include β-thalassemia, sideroblastic anemias, pyruvate kinase deficiency, and congenital dyserythropoietic anemias. This manuscript reviews the definition and evidence for ineffective erythropoiesis and describes the most common hereditary disorders of dyserythropoiesis.

Address: Department of Internal Medicine, Division of Hematology and Hematologic Malignancies, University of Utah, Salt Lake City, UT, USA.; 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: [email protected].

DOI: 10.1016/j.bcmd.2025.102910

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MeSH Terms: Humans, Erythropoiesis, Anemia, Dyserythropoietic, Congenital, beta-Thalassemia, Anemia, Sideroblastic, Pyruvate Metabolism, Inborn Errors, Pyruvate Kinase, Anemia, Hemolytic, Congenital Nonspherocytic