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Familial pseudohyperkalaemia Cardiff: a mild version of cryohydrocytosis
Author(s) -
Gore Daniel M.,
Chetty Margaret C.,
Fisher Julie,
Nicolaou Anna,
Stewart Gordon W.
Publication year - 2002
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.1365-2141.2002.03376.x
Subject(s) - pedigree chart , erythrocyte membrane , hereditary spherocytosis , hematology , leak , phenotype , red blood cell , red cell , genetics , medicine , immunology , gastroenterology , pathology , membrane , biology , gene , physics , thermodynamics
Summary. We have investigated a Welsh pedigree showing the ‘familial pseudohyperkalaemia’ phenotype of dominantly inherited, red‐cell‐based, temperature‐dependent pseudohyperkalaemia associated with normal haematology. The ‘passive leak’ to K across the membrane of these abnormal red cells showed a ‘U‐shaped’ temperature dependence, with a minimum at about 23°C, qualitatively similar to that seen in the frankly haemolytic ‘cryohydrocytosis’ variant of the hereditary stomatocytosis group. Like three previous pedigrees with cryohydrocytosis, these patients show an excess of ether lipids in the membrane. However, these patients differ from other ‘familial pseudohyperkalaemia’ pedigrees, in which the leak showed different temperature profiles.