Erythrocyte Membrane Disorders

Willian T Tse, Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA

Published online: January 2006

DOI: 10.1038/npg.els.0006094

Erythrocyte membrane disorders, such as hereditary spherocytosis and elliptocytosis, usually present with abnormal red cell shapes, hemolysis and anemia. Recent genomic research has shown that defects in proteins that constitute the erythrocyte membrane skeleton are often the causes of these disorders.

Keywords: spherocytosis; elliptocytosis; pyropoikilocytosis; spectrin; ankyrin

Figure 1. Structure of the erythrocyte membrane. A membrane skeleton lies on the inner surface of the lipid bilayer of the erythrocyte membrane and is important in maintaining the structural integrity of red blood cells. The membrane skeleton comprises a hexagonal network of - and -spectrin peptides intertwined to form a strong but flexible scaffold. The peripheral membrane proteins ankyrin, protein 4.2, actin and protein 4.1 anchor the spectrin scaffold to the lipid bilayer by attaching to the major erythrocyte integral membrane proteins, band 3 and the glycophorins.
close
 References
    Allen SJ, O'Donnell A, Alexander ND, et al. (1999) Prevention of cerebral malaria in children in Papua New Guinea by southeast Asian ovalocytosis band 3. American Journal of Tropical Medicine and Hygiene 60: 1056–1060.
    Brugnara C (1997) Erythrocyte membrane transport physiology. Current Opinion in Hematology 4: 122–127.
    Eber SW, Gonzalez JM, Lux ML, et al. (1996) Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis. Nature Genetics 13: 214–218.
    Grootenboer S, Schischmanoff PO, Laurendeau I, et al. (2000) Pleiotropic syndrome of dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema maps to 16q23–q24. Blood 96: 2599–2605.
    Marechal J, Wilmotte R, Kanzaki A, et al. (1995) Ethnic distribution of allele LELY, a low-expression allele of red-cell spectrin -gene. British Journal of Haematology 90: 553–556.
    Peters LL, Shivdasani RA, Liu SC, et al. (1996) Anion exchanger 1 (band 3) is required to prevent erythrocyte membrane surface loss but not to form the membrane skeleton. Cell 86: 917–927.
    Rampoldi L, Danek A and Monaco AP (2002) Clinical features and molecular bases of neuroacanthocytosis. Journal of Molecular Medicine 80: 475–491.
    Ueno S, Maruki Y, Nakamura M, et al. (2001) The gene encoding a newly discovered protein, chorein, is mutated in chorea–acanthocytosis. Nature Genetics 28: 121–122.
    Wichterle H, Hanspal M, Palek J and Jarolim P (1996) Combination of two mutant spectrin alleles underlies a severe spherocytic hemolytic anemia. Journal of Clinical Investigations 98: 2300–2307.
    Zhang Z, Weed SA, Gallagher PG and Morrow JS (2001) Dynamic molecular modeling of pathogenic mutations in the spectrin self-association domain. Blood 98: 1645–1653.
 Further Reading
    Bader-Meunier B, Gauthier F, Archambaud F, et al. (2001) Long-term evaluation of the beneficial effect of subtotal splenectomy for management of hereditary spherocytosis. Blood 97: 399–403.
    Bolton-Maggs PH (2000) The diagnosis and management of hereditary spherocytosis. Baillière's Best Practice and Research: Clinical Haematology 13: 327–342.
    Delhommeau F, Cynober T, Schischmanoff PO, et al. (2000) Natural history of hereditary spherocytosis during the first year of life. Blood 95: 393–397.
    book Gallagher PG and Benz Jr EJ (2000) "The erythrocyte membrane and cytoskeleton: structure, function, and disorders". In: Stamatoyannopoulos G, Majerus PW, Perlmutter RM and Varmus H (eds.) The Molecular Basis of Blood Disease, 3rd edn, pp. 275–313. Philadelphia: WB Saunders.
    Hansen K and Singer DB (2001) Asplenic–hyposplenic overwhelming sepsis: postsplenectomy sepsis revisited. Pediatric and Developmental Pathology 4: 105–121.
    Miraglia del Giudice E, Nobili B, Francese M, et al. (2001) Clinical and molecular evaluation of non-dominant hereditary spherocytosis. British Journal of Haematology 112: 42–47.
    Stewart GW and Turner EJ (1999) The hereditary stomatocytoses and allied disorders: congenital disorders of erythrocyte membrane permeability to Na and K. Baillière's Best Practice and Research: Clinical Haematology 12: 707–727.
    Tanner MJ (2002) Band 3 anion exchanger and its involvement in erythrocyte and kidney disorders. Current Opinion in Hematology 9: 133–139.
    Tse WT and Lux SE (1999) Red blood cell membrane disorders. British Journal of Haematology 104: 2–13.
    book Tse WT and Lux SE (2001) "Hereditary elliptocytosis and hereditary spherocytosis". In: Scriver CR, Beaudet AL, Sly WS and Valle D (eds.) The Metabolic and Molecular Basis of Inherited Diseases, 8th ed., pp. 4665–4727. New York: McGraw-Hill.

Related Sub-Topics:

Cell Membranes | Cell Cytoskeleton | Cell Shape | Membrane Proteins | Protein Structure | Specific Genetic Disorders
Contact Editor close
Submit a note to the editor about this article by filling in the form below.

* Required Field

Article Title: Erythrocyte Membrane Disorders
 
How to Cite close
Tse, Willian T(Jan 2006) Erythrocyte Membrane Disorders. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0006094]