Pseudohyperkalaemia and pseudomacrocytosis caused by inherited red-cell disorders of the 'hereditary stomatocytosis' group.
Unusual dominantly inherited conditions of the red cell, collected under the generic title 'hereditary stomatocytosis and allied disorders', exist, in which the red cell 'leaks' the univalent cations sodium (Na+) and potassium (K+). In some kindreds with these disorders, bizarre temperature effects can occur that have profound effects on the way in which the cells behave when removed from the body and cooled to either room or refrigerator temperatures. In some types, the cells lose K+ at room temperature, giving rise to pseudohyperkalaemia; in others, this occurs in concert with swelling of the red cell and pseudomacrocytosis. In some of these conditions, a red-cell abnormality is clearly demonstrated by the presence of haemolytic anaemia; however, routine haematology can be virtually normal in the milder versions. All are inherited as dominants, although new mutations can be seen.
Chetty
M C
MC
Department of Medicine, University College London, Rayne Institute, University Street, London WC1E 6JJ, UK.
Stewart
G W
GW
D000740:Anemia / Q000097:blood* / Q000175:diagnosis / Q000235:genetics*; D000748:Anemia, Macrocytic / Q000097:blood; D001692:Biological Transport; D004909:Erythrocyte Indices; D004910:Erythrocyte Membrane / Q000378:metabolism*; D005260:Female; D006706:Homeostasis; D006801:Humans; D006947:Hyperkalemia / Q000378:metabolism*; D012964:Sodium / Q000378:metabolism; D013696:Temperature
D012964:Sodium