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Erythropoiesis—genetic abnormalities

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Erythropoietins, Erythropoietic Factors, and Erythropoiesis

Part of the book series: Milestones in Drug Therapy ((MDT))

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Abstract

We review genetic mechanisms altering erythropoiesis that lead to either an increased red cell mass (polycythemia/erythrocytosis) or decreased red cell mass (anemia). Since polycythemia is often and inconsistently referred to by an alternative term, erythrocytosis, and, as no consensus on usage has been reached, we refer to the individual entities by the term used in the original description. Anemias are far more common than polycythemic states, and most are due to acquired nutritional, autoimmune, and toxic causes; or to inherited globin, cytoskeleton, and red cell enzyme mutations. These causes result in hemolytic, microcytic/hypochromic, hypoproliferative, or inefficient erythropoiesis anemia phenotypes. In this review, we concentrate on the few well-delineated germline or somatic mutations disturbing normal control of erythropoiesis that cause a disease phenotype either in humans or in mouse.

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Author information

Authors and Affiliations

  1. University of Utah, 30 North 1900 East, Rm 5C310 Som, Salt Lake City, UT, 84132-2408, USA

    Josef T. Prchal (Professor of medicine)

  2. Utah Cancer Specialists, 3838 South 700 East, Ste 100, Salt Lake City, UT, 84106, USA

    Xylina T. Gregg

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  1. Josef T. Prchal
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  2. Xylina T. Gregg
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Editors and Affiliations

  1. Amgen Inc., One Amgen Center Drive, Mailstop 29-1-A, Thousand Oaks, CA, 91320, USA

    Steven G. Elliott

  2. MA Foote Associates, Westlake Village, CA, 91362, USA

    Mary Ann Foote

  3. Amgen Inc., One Amgen Center Drive, Mailstop 15-2-A, Thousand Oaks, CA, 91320, USA

    Graham Molineux

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Prchal, J.T., Gregg, X.T. (2009). Erythropoiesis—genetic abnormalities. In: Elliott, S.G., Foote, M.A., Molineux, G. (eds) Erythropoietins, Erythropoietic Factors, and Erythropoiesis. Milestones in Drug Therapy. Birkhäuser Basel. https://doi.org/10.1007/978-3-7643-8698-6_4

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