Hereditary stomatocytosis
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| Hereditary stomatocytosis Classification and external resources | |
| ICD-10 | D58.8 |
|---|---|
| ICD-9 | 282.8 |
| OMIM | 185000 185010 |
| DiseasesDB | 29710 |
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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.
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 (Oski et al, 1969).
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 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
- Eber, S.W., Lande, W.M., Iarocci, T.A., Mentzer, W.M., Hohn, P., Wiley, J.S. & Schroter, W. (1989) Hereditary stomatocytosis: consistent association with an integral membrane protein deficiency. Br. J. Haematol., 72, 452-455.
- Hiebl-Dirschmied, C.M., Adolf, G.R. & Prohaska, R. (1991a). Isolation and partial characterisation of the human band 7 integral membrane protein. Biochim. Biophys. Acta 1065: 195-202.
- Hiebl-Dirschmied, C.M., Entler, B., Glotzmann, C., Maurer-Fogy, I., Stratowa, C. & Prohaska, R. (1991b). Cloning and nucleotide sequence of cDNA encoding human erythrocyte band 7 integral membrane protein. Biochimica et Biophysica Acta 1090: 123-124.
- Oski, F.A., Naiman, J.L., Blum, S.F., Zarkowsky, H.S., Whaun, J., Shohet, S.B., Green, A. & Nathan, D.G. (1969) Congenital haemolytic anaemia with high-sodium, low-potassium red cells. Studies of three generations of a family with a new variant. New England Journal of Medicine., 280, 909-916.
- Stewart, G.W., Hepworth-Jones, B.E., Keen, J.N., Dash, B.C.J., Argent, A.C. & Casimir, C.M. (1992) Isolation of cDNA coding for a ubiquitous membrane protein deficient in high Na, low K stomatocytic erythrocytes. Blood, 79, 1593-1601.
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Acknowledgement and Attribution Regarding Sources of Content
Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .
