Familial Pseudohyperkalemia Maps to the Same Locus as Dehydrated Hereditary Stomatocytosis (Hereditary Xerocytosis)

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 fran...

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Bibliographic Details
Published in:Blood 1999-05, Vol.93 (9), p.3120-3123
Main Authors: Iolascon, A., Stewart, G.W., Ajetunmobi, J.F., Perrotta, S., Delaunay, J., Carella, M., Zelante, L., Gasparini, P.
Format: Article
Language:English
Subjects:
Anemia, Hemolytic, Congenital - blood
Anemia, Hemolytic, Congenital - genetics
Anemias. Hemoglobinopathies
Biological and medical sciences
Chromosome Mapping
Chromosomes, Human, Pair 16
Diseases of red blood cells
Erythrocytes - metabolism
Female
Genetic Linkage
Genetic Markers
Hematologic and hematopoietic diseases
Humans
Hyperkalemia - blood
Hyperkalemia - genetics
Lod Score
Male
Medical sciences
Potassium - blood
Recombination, Genetic
Scotland
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Summary: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.
ISSN:0006-4971
1528-0020
DOI:10.1182/blood.V93.9.3120