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

D. M. Gore, Mark Layton, A. K. Sinha, P. J. Williamson, Bijay Vaidya, V. Connolly, P. Mannix, M. C. Chetty, Anna Nicolaou, G. W. Stewart

    Research output: Contribution to journalArticlepeer-review

    Abstract

    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. © 2004 Blackwell Publishing Ltd.
    Original languageEnglish
    Pages (from-to)521-527
    Number of pages6
    JournalBritish Journal of Haematology
    Volume125
    Issue number4
    DOIs
    Publication statusPublished - May 2004

    Keywords

    • Hereditary stomatocytosis
    • Na +-K +-leaky red cell disorders
    • Pseudohyperkalaemia
    • Temperature dependence

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