Hereditary Disorders of the Red Cell Membrane and Disorders of Red Cell Metabolism

Paola Bianchi, Narla Mohandas

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Inherited disorders affecting the red cell membrane and metabolism result in shorter red cell survival and congenital haemolytic anaemia of variable severity. Defects of membrane proteins cause abnormal red cell morphology. The mutations responsible for these defects are many and heterogeneous, and result in hereditary spherocytosis, hereditary elliptocytosis/pyropoikilocytosis, Southeast Asian ovalocytosis, and hereditary stomatocytosis. The main metabolic pathways in red cell are the anaerobic glycolysis, the hexose monophosphate shunt, the glutathione cycle, and nucleotide metabolism. They produce ATP as the only source of energy and reducing power to maintain haemoglobin in its functional state and to counteract oxidative stresses. The most common enzymopathies are deficiencies of glucose-6-phosphate dehydrogenase and pyruvate kinase, however, there are a number of other very rare enzyme disorders. When the defective enzyme is expressed throughout the body, non hematological symptoms may also occur.

Original languageEnglish
Title of host publicationPostgraduate Haematology: Seventh Edition
PublisherWiley Blackwell
Pages114-137
Number of pages24
ISBN (Electronic)9781118853771
ISBN (Print)9781118854327
DOIs
Publication statusPublished - Nov 6 2015

Keywords

  • Glucose-6-phosphate dehydrogenase
  • Glycolysis
  • Haemolytic anaemia
  • Hereditary elliptocytosis
  • Hereditary spherocytosis
  • Hereditary stomatocytosis
  • Pyruvate kinase deficiency
  • Red blood cells
  • Red cell enzyme defects
  • Red cell membrane disorders
  • Red cell metabolism

ASJC Scopus subject areas

  • Medicine(all)

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  • Cite this

    Bianchi, P., & Mohandas, N. (2015). Hereditary Disorders of the Red Cell Membrane and Disorders of Red Cell Metabolism. In Postgraduate Haematology: Seventh Edition (pp. 114-137). Wiley Blackwell. https://doi.org/10.1002/9781118853771.ch8