Chapter 12. The Molecular Basis of Anemia

  1. Drew Provan MD, FRCP, FRCPath Senior Lecturer3 and
  2. John G. Gribben MD, DSc, FMedSci Professor4
  1. Lucio Luzzatto MD Scientific Director1 and
  2. Anastasios Karadimitris PhD, MRCP, FRCPath Reader Honorary Consultant Haematologist2

Published Online: 10 MAR 2010

DOI: 10.1002/9781444318531.ch12

Molecular Hematology, Third Edition

Molecular Hematology, Third Edition

How to Cite

Luzzatto, L. and Karadimitris, A. (2010) The Molecular Basis of Anemia, in Molecular Hematology, Third Edition (eds D. Provan and J. G. Gribben), Wiley-Blackwell, Oxford, UK. doi: 10.1002/9781444318531.ch12

Editor Information

  1. 3

    Centre for Haematology, Institute of Cell and Molecular Science, Barts and The London School of Medicine & Dentistry, The Royal London Hospital, London, UK

  2. 4

    Centre for Experimental Cancer Medicine, Institute of Cancer, Barts and The London School of Medicine & Dentistry, London, UK

Author Information

  1. 1

    Scientific Director, National Institute for Cancer Research, Istituto Scientifico Tumori, Genova, Italy

  2. 2

    Department of Haematology, Imperial College London, Hammersmith Hospital Campus, London, UK

Publication History

  1. Published Online: 10 MAR 2010
  2. Published Print: 31 MAR 2010

ISBN Information

Print ISBN: 9781405182317

Online ISBN: 9781444318531



  • molecular basis of anemia;
  • megaloblastic anemia, highly characteristic set of morphological changes;
  • megaloblastic anemia - having multiple etiologies;
  • megaloblastic anemia diagnosis, finely stippled chromatin of erythroid cells;
  • classification of megaloblastic anemias;
  • metabolic basis of megaloblastosis in folate and vitamin B12 (cobalamin, Cbl) deficiency;
  • congenital dyserythropoietic anemia (CDA) - designation for group of rare inherited disorders;
  • “sideroblastic anemia” (SA) - diverse collection of diseases, mechanisms converging;
  • Pearson marrow–pancreas syndrome (PMPS) –unique among SAs, underlying genetic lesion in mitochondrial DNA (mtDNA);
  • inherited bone marrow failure syndromes


This chapter contains sections titled:

  • Introduction

  • Megaloblastic anemia

  • Congenital dyserythropoietic anemias

  • The sideroblastic anemias

  • Conditions associated with bone marrow failure

  • Red cell enzyme deficiencies

  • Conclusions

  • Further reading