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Four pedigrees of the cation‐leaky hereditary stomatocytosis class presenting with pseudohyperkalaemia. Novel profile of temperature dependence of Na + –K + leak in a xerocytic form
Author(s) -
Gore D. M.,
Layton Mark,
Sinha A. K.,
Williamson P. J.,
Vaidya Bijay,
Connolly V.,
Mannix P.,
Chetty M. C.,
Nicolaou Anna,
Stewart G. W.
Publication year - 2004
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 - 10.1111/j.1365-2141.2004.04944.x
Subject(s) - pedigree chart , haemolysis , erythrocyte membrane , chemistry , red blood cell , leak , intracellular , membrane , biochemistry , immunology , biology , physics , gene , thermodynamics
Summary We report four pedigrees of the group of Na + –K + ‐leaky red cell disorders of the ‘hereditary stomatocytosis’ class. Each showed pseudohyperkalaemia because of temperature‐dependent loss of K + from red cells on storage of whole blood at room temperature. All pedigrees showed an abnormality in the temperature dependence of the ‘passive leak’ of the membrane to K + . Two pedigrees, both of which showed a compensated haemolytic state with dehydrated red cells and target cells on the blood film, showed a novel pattern, in which the profile was flat between 37°C and about 32°C then dropped as the temperature was reduced to zero. The third showed the ‘shallow slope’ profile, with stomatocytes on the blood film and very markedly abnormal intracellular Na + and K + levels. Minimal haemolysis was present. The fourth pedigree, of Asian origin, showed the shoulder pattern (minimum at 32°C, maximum at 12°C) with essentially normal haematology. Both of these latter two forms have previously been seen in other pedigrees. The first variant represents a novel kind of temperature dependence of the passive leak found in these pedigrees presenting with pseudohyperkalaemia.