Hereditary stomatocytosis
| Hereditary stomatocytosis | |
| ICD-10 | D58.8 |
|---|---|
| ICD-9 | 282.8 |
| OMIM | 185000 185010 |
| DiseasesDB | 29710 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
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'.
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.[2]
Classification
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.
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.