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A genetic syndrome associating dehydrated hereditary stomatocytosis, pseudohyperkalaemia and perinatal oedema
Author(s) -
Sabine Grootenboer,
Pierre-Olivier Schischmanoff,
Thérèse Cynober,
J C Rodrigue,
Jean Delaunay,
Gil Tchernia,
J.P. Dommergues
Publication year - 1998
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.1365-2141.1998.00992.x
Subject(s) - medicine , ascites , hereditary spherocytosis , hemolytic anemia
Dehydrated hereditary stomatocytosis is a haemolytic anaemia with an underlying impairment of monovalent cation transport. It is sometimes associated with pseudohyperkalaemia (e.g. an increase of kalaemia when blood is left at room temperature) or with perinatal ascites. We report a case in which dehydrated hereditary stomatocytosis, pseudohyperkalaemia and perinatal oedema coexisted, and were transmitted en bloc in a dominant fashion. Transfusions did not cure the oedema, that spontaneously receded after a few months. We assume that the various manifestations stemmed from one single altered locus, yet to be determined.