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Blood, Vol. 93 No. 9 (May 1), 1999:
pp. 3120-3123
Familial Pseudohyperkalemia Maps to the Same Locus as Dehydrated
Hereditary Stomatocytosis (Hereditary Xerocytosis)
A. Iolascon,
G.W. Stewart,
J.F. Ajetunmobi,
S. Perrotta,
J. Delaunay,
M. Carella,
L. Zelante, and
P. Gasparini
From the D Biomed Età Evolutiva, University di Bari, Bari,
Italy; the Department of Medicine, University College London, Rayne
Institute, London, UK; the Department di Pediatria, II University
Napoli, Napoli, Italy; Service d'Hématologie, and INSERM U473,
Hôpital de Bicêtre, Le Kremlin-Bicêtre, France; and
Service di Genetica Medica, IRCCS-CSS, San Giovanni Rotondo (Fg),
Italy.
Familial pseudohyperkalemia is a "leaky red blood cell"
condition in which the cells show a temperature-dependent loss of potassium (K) from red blood cells when stored at room temperature, manifesting as apparent hyperkalemia. The red blood cells show a
reduced lifespan in vivo but there is no frank hemolysis. Studies of
cation content and transport show a marginal increase in permeability at 37°C and a degree of cellular dehydration, qualitatively similar to the changes seen in dehydrated hereditary stomatocytosis (hereditary xerocytosis). Physiological studies have shown that the passive leak to
K has an abnormal temperature dependence, such that the leak is less
sensitive to temperature than that in normal cells. We performed
genetic mapping on the original family and found that the condition in
this kindred maps to the same locus (16q23-ter) that we have previously
identified for an Irish family with dehydrated hereditary
stomatocytosis, which does not show the same temperature effects.
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