World Library  
Flag as Inappropriate
Email this Article

Hereditary stomatocytosis

Article Id: WHEBN0003463708
Reproduction Date:

Title: Hereditary stomatocytosis  
Author: World Heritage Encyclopedia
Language: English
Subject: RHAG, Nutritional anemia, Delta-thalassemia, Transferrin saturation, Band 3
Collection: Hereditary Hemolytic Anemias
Publisher: World Heritage Encyclopedia
Publication
Date:
 

Hereditary stomatocytosis

Hereditary stomatocytosis
Stomatocytes
Classification and external resources
ICD-10 D58.8
ICD-9-CM 282.8
OMIM 185000 185010
DiseasesDB 29710

Hereditary stomatocytosis describes a number of inherited autosomal dominant human conditions which affect the red blood cell, in which the membrane or outer coating of the cell 'leaks' sodium and potassium ions.

Contents

  • Pathophysiology 1
  • Variants 2
  • Treatment 3
  • Causes 4
  • References 5
  • Further reading 6

Pathophysiology

Osmosis leads to the red blood cell having a constant tendency to swell and burst. This tendency is countered by manipulating the flow of sodium and potassium ions. A 'pump' forces sodium out of the cell and potassium in, and this action is balanced by a process called 'the passive leak'. In the hereditary stomatocytoses, the passive leak is increased and the cell becomes swamped with salt and water. The cell lyses and a haemolytic anaemia results. For as yet unknown reasons, the cells take on an abnormal shape, resembling a mouth or 'stoma'.

Variants

Haematologists have identified a number of variants. These can be classified as below.

  • Overhydrated hereditary stomatocytosis
  • Dehydrated HSt (hereditary xerocytosis; hereditary hyperphosphatidylcholine haemolytic anaemia)
  • Dehydrated with perinatal ascites
  • Cryohydrocytosis
  • 'Blackburn' variant.
  • Familial pseudohyperkalaemia

There are other families that do not fall neatly into any of these classifications.[1]

Stomatocytosis is also found as a hereditary disease in Alaskan malamute and miniature schnauzer dogs.[2]

Treatment

At present there is no specific treatment. Many patients with haemolytic anaemia take folic acid (vitamin B9) since the greater turnover of cells consumes this vitamin. During crises transfusion may be required. Clotting problems can occur for which anticoagulation may be needed.

Causes

The cause for these hereditary conditions is now understood to be various mutations in the erythrocyte membrane protein, band 3. It is this protein which mediates the cation leaks which are characteristic of this disease.[3]

References

  1. ^ Oski FA, Naiman JL, Blum SF, et al. (1969). "Congenital hemolytic anemia with high-sodium, low-potassium red cells. Studies of three generations of a family with a new variant". N. Engl. J. Med. 280 (17): 909–16.  
  2. ^ Thrall, MA (2006). "Veterinary Hematology and Clinical Chemistry, Blackwell Publishing". pp. 71–72. 
  3. ^ Bruce LJ, Robinson HC, Guizouarn H, et al. (2005). "Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1". Nat. Genet. 37 (11): 1258–63.  

Further reading

  • Eber SW, Lande WM, Iarocci TA, et al. (1989). "Hereditary stomatocytosis: consistent association with an integral membrane protein deficiency". Br. J. Haematol. 72 (3): 452–5.  
  • Hiebl-Dirschmied CM, Adolf GR, Prohaska R (1991). "Isolation and partial characterization of the human erythrocyte band 7 integral membrane protein". Biochim. Biophys. Acta 1065 (2): 195–202.  
  • Hiebl-Dirschmied CM, Entler B, Glotzmann C, Maurer-Fogy I, Stratowa C, Prohaska R (1991). "Cloning and nucleotide sequence of cDNA encoding human erythrocyte band 7 integral membrane protein". Biochim. Biophys. Acta 1090 (1): 123–4.  
  • Stewart GW, Hepworth-Jones BE, Keen JN, Dash BC, Argent AC, Casimir CM (1992). "Isolation of cDNA coding for an ubiquitous membrane protein deficient in high Na+, low K+ stomatocytic erythrocytes". Blood 79 (6): 1593–601.  
This article was sourced from Creative Commons Attribution-ShareAlike License; additional terms may apply. World Heritage Encyclopedia content is assembled from numerous content providers, Open Access Publishing, and in compliance with The Fair Access to Science and Technology Research Act (FASTR), Wikimedia Foundation, Inc., Public Library of Science, The Encyclopedia of Life, Open Book Publishers (OBP), PubMed, U.S. National Library of Medicine, National Center for Biotechnology Information, U.S. National Library of Medicine, National Institutes of Health (NIH), U.S. Department of Health & Human Services, and USA.gov, which sources content from all federal, state, local, tribal, and territorial government publication portals (.gov, .mil, .edu). Funding for USA.gov and content contributors is made possible from the U.S. Congress, E-Government Act of 2002.
 
Crowd sourced content that is contributed to World Heritage Encyclopedia is peer reviewed and edited by our editorial staff to ensure quality scholarly research articles.
 
By using this site, you agree to the Terms of Use and Privacy Policy. World Heritage Encyclopedia™ is a registered trademark of the World Public Library Association, a non-profit organization.
 


Copyright © World Library Foundation. All rights reserved. eBooks from Project Gutenberg are sponsored by the World Library Foundation,
a 501c(4) Member's Support Non-Profit Organization, and is NOT affiliated with any governmental agency or department.