Familial pseudohyperkalemia maps to the same locus as dehydrated hereditary stomatocytosis (hereditary xerocytosis)

Blood

Volumn 93, Issue 9, 1999, Pages 3120-3123

  Iolascon, A ^a   Stewart, G W ^b   Ajetunmobi, J F ^b   Perrotta, S ^b   Delaunay, J ^b   Carella, M ^b   Zelante, L ^b   Gasparini, P ^b  

^a UNIVERSITY OF BARI   (Italy)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOMAL LOCALIZATION; CHROMOSOME 16Q; CLINICAL ARTICLE; CONTROLLED STUDY; ERYTHROCYTE LIFESPAN; GENE LOCUS; HEREDITARY HEMOLYTIC ANEMIA; HUMAN; HYPERKALEMIA; PRIORITY JOURNAL;

EID: 0033134755     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v93.9.3120     Document Type: Article

References (21)

1. Stewart GW: The membrane defect in hereditary stomatocytosis, in Tanner MJA, Anstee DJ (eds): Red Cell Membrane Antigens, London, UK, Baillere-Tyndall, 1993, p 371
2. Delaunay J, Stewart GW, Iolascon A: Hereditary dehydrated and overhydrated stomatocytosis: Recent advances. Curr Opin Hematol 1999 (in press)
3. Stewart GW, Corrall RJM, Fyffe JA, Stockdill GM, Strong JA: Familial pseudohyperkalaemia. A new syndrome. Lancet 2:175, 1979
4. Luciani JC, Lavabre-Bertand T, Fourcade J, Barjon P, Mimran A, Callis A: Familial pseudohyperkalaemia. Lancet 1:491, 1980
5. Leadbetter S, O'Dowd TC: Possible screening test for familial pseudohyperkalaemia. Lancet 2:103, 1982
6. Meenaghan M, Follett GF, Brophy PJ: Temperature sensitivity of potassium flux into red blood cells in the familial pseudohyperkalaemia syndrome. Biochimica et Biophysica Acta 821:72, 1985
7. James DR, Stansbie D: Familial pseudohyperkalaemia: Inhibition of erythrocyte K efflux at 4°C by quinine. Clin Sci 73:557, 1987
8. Dagher G, Vantyghem M, Doise B, Lallau G, Racadot A, Lefebre J: Altered erythrocyte cation permeability in familial pseudohyperkalaemia. Clin Sci 77:213, 1988
9. Vantyghen MC, Dagher G, Doise B, Lallau G, Vandewoulle B, Racadot A, Lefebre J: Pseudo-hyperkaliemie. A Propos d'une observation familiale. Ann Endocrinol 52:104, 1991
10. Stewart GW, Ellory JC: A family with mild xerocytosis showing increased cation permeability at low temperatures. Cli Sci 69:309, 1985
11. Glader BE, Fortier N, Albamm MM, Nathan DG: Congenital hemolytic anemia associated with dehydrated erythrocytes and increased potassium loss. N Engl J Med 291:491, 1974
12. Johnson RM, Ravindranah Y: Osmotic scan ektacytometry in clinical diagnosis. J Pediatr Hematol Oncol 18:122, 1996
13. Stewart GW, Amess JAL, Eber SW, Kingswood C, Lane PA, Smith BD, Mentzer WC: Thrombo-embolic disease after splenectomy for hereditary stomatocytosis. Br J Haematol 93:303, 1996
14. Carella M, Stewart G, Ajetunmobi JF, Perrotta S, Grootenboer S, Tchernia G, Delaunay J, Totaro A, Zelante L, Gasparini P, Iolascon A: Mapping of dehydrated hereditary stomatocytosis (hereditary xerocytosis) locus to chromosome 16 (16q23-qter) by genome wide search. Am J Hum Genet 63:810, 1998
15. Coles SE, Ho MM, Chetty MC, Nicholson A, Stewart GW: A variant of hereditary stomatocytosis with marked pseudohyperkalaemia. Br J Haematol 104:275, 1999
16. Entezami M, Becker R, Menssen HD, Marcinkowski M, Versmold HT: Xerocytosis with concomitant intrauterine ascites: First description and therapeutic approach. Blood 87:5392, 1996
17. Grootenboer S, Schischmanoff P, Cynober T, Rodrigue J, Delaunay J, Tchernia G, Dommergues J: A genetic syndrome associating dehydrated hereditary stomatocytosis, pseudohyperkalaemia and perinatal oedema. Br J Haematol 103:383, 1998
18. Dib C, Faure S, Fizames C, Samson D, Drout N, Vignal P, Millasseau P: A comprehsive genetic map of the human genome based on 5264 microsatellites. Nature 380:152, 1996
19. Ott J: Analysis of Human Linkage (ed 2). Baltimore, MD, The John Hopkins University Press, 1992
20. Wieth J: Paradoxical temperature dependence of sodium and potassium fluxes in human red cells. J Physiol 207:563, 1970
21. Blackstock EJ, Stewart GW: The dependence on external cation of sodium and potassium fluxes across the human red cell membrane at low temperatures. J Physiol 375:403, 1986