46. Hemolytic Anemias Associated with Disorders of Erythrocyte Membrane and Cytoskeleton Proteins

  1. Kandice Kottke-Marchant MD, PhD5,6,7 and
  2. Bruce H. Davis MD8
  1. May-Jean King PhD1,
  2. Lesley J. Bruce PhD2 and
  3. Didier Dhermy MD, PhD3,4

Published Online: 8 AUG 2012

DOI: 10.1002/9781444398595.ch46

Laboratory Hematology Practice

Laboratory Hematology Practice

How to Cite

King, M.-J., Bruce, L. J. and Dhermy, D. (2012) Hemolytic Anemias Associated with Disorders of Erythrocyte Membrane and Cytoskeleton Proteins, in Laboratory Hematology Practice (eds K. Kottke-Marchant and B. H. Davis), Wiley-Blackwell, Oxford, UK. doi: 10.1002/9781444398595.ch46

Editor Information

  1. 5

    Pathology & Laboratory Medicine Institute, Cleveland, OH, USA

  2. 6

    Department of Pathology, Cleveland Clinic Lerner College of Medicine, Cleveland, OH, USA

  3. 7

    Hemostasis and Thrombosis, Department of Clinical Pathology, Cleveland Clinic, Cleveland, OH, USA

  4. 8

    Trillium Diagnostics, LLC, Bangor, ME, USA

Author Information

  1. 1

    Membrane Biochemistry, International Blood Group Reference Laboratory, NHS Blood & Transplant, Bristol, UK

  2. 2

    Bristol Institute for Transfusion Sciences, NHS Blood & Transplant, Bristol, UK

  3. 3

    INSERM U665, Institut National Transfusion Sanguine, Paris, France

  4. 4

    Directeur de Recherche au CNRS, Institut National Transfusion Sanguine, Paris, France

Publication History

  1. Published Online: 8 AUG 2012
  2. Published Print: 10 APR 2012

ISBN Information

Print ISBN: 9781405162180

Online ISBN: 9781444398595

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Keywords:

  • hemolytic anemia, red cell membrane, hereditary spherocytosis, hereditary elliptocytosis;
  • hereditary pyropoikilocytosis;
  • hereditary stomatocytosis;
  • cryohydrocytosis;
  • Southeast Asian ovalocytosis;
  • cation permeability;
  • eosin-5-maleimide

Summary

This chapter describes the pathophysiology, diagnosis, and the laboratory investigations for inherited (or congenital) hemolytic anemias caused by fragile membrane skeleton and anomalous cation permeability in the red cell. Hereditary spherocytosis (HS) and hereditary elliptocytosis/pyropoikilocytosis (HE/HPP) are the more common hemolytic anemias associated with fragile red cells that present distinct morphology on blood films. The biochemical and molecular basis for HS and HE/HPP are well documented. Hereditary stomatocytoses represent a collection of very rare red cell disorders that include overhydrated and dehydrated hereditary stomatocytoses, familial pseudohyperkalemia, and cryohydrocytosis. Their characteristic features are macrocytosis with concurrent altered permeability to sodium and potassium. Current screening and confirmatory tests for these red cell disorders are also presented.