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Familial pseudohyperkalaemia Chiswick: a novel congenital thermotropic variant of K and Na transport across the human red cell membrane
Author(s) -
Haines Philip G.,
Crawley Charles,
Chetty Margaret C.,
Jarvis Helen,
Coles Suzanne E.,
Fisher Julie,
Nicolaou Anna,
Stewart Gordon W.
Publication year - 2001
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.2001.02564.x
Subject(s) - macrocytosis , red cell , membrane , leak , red blood cell , chemistry , hematology , medicine , pathology , biochemistry , anemia , physics , thermodynamics
Two families with inherited abnormalities in Na and K transport across the red cell membrane are described. Both presented with ‘pseudohyperkalaemia’ as a result of loss of K from the red cells on storage at room temperature. Routine haematology was essentially normal, except for macrocytosis in one family. Studies of the temperature dependence of the passive leak to K showed a novel shoulder pattern with a minimum at 25°C, a maximum at 10°C, followed by a further fall. As in other cases of red cell‐based pseudohyperkalaemia, the abnormal temperature dependence of this ‘leak’ flux could be held to account for the loss of K from the cells at room temperature. These cases represent a novel variant of the temperature dependence of the passive leak of K and Na across the red cell membrane, and can be classified as a mild, non‐haemolytic form of the group known as the hereditary stomatocytosis and allied disorders’.