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RED CELLS
From the INSERM U473, Le Kremlin-Bicêtre,
France; Laboratoire d'Hématologie,
d'Immunologie et de Cytogénétique, Hôpital de
Bicêtre, Assistance Publique-Hôpitaux de Paris,
Faculté de Médecine Paris-Sud, Le Kremlin-Bicêtre,
France; Laboratoire de Biochimie I, Hôpital de
Bicêtre, Le Kremlin-Bicêtre, France;
Laboratoire de Biologie Spécialisée, Hôpital de
Bicêtre, Le Kremlin-Bicêtre, France;
Laboratoire de Biologie Moléculaire, Faculté de Pharmacie,
Université Paris V, Paris, France; Service de
Pédiatrie Générale, Hôpital de Bicêtre,
Le Kremlin-Bicêtre, France; INSERM U 409, Faculté de Médecine Xavier-Bichat, Paris,
France; Service d'Hématologie, Hôpital
Michallon, Grenoble, France; Service d'Hématologie,
Hôpital Necker-Enfants-Malades, Paris, France;
Hospital Laboratories and Clinical Pathology, University of
Massachusetts Medical Center, Worcester, MA; Department of
Medicine, Cardeza Foundation for Hematologic Research,
Philadelphia, PA; INSERM U 292, Le Kremlin-Bicêtre,
France; INSERM U 535, Le Kremlin-Bicêtre,
France; Department of Medicine, University College,
London, UK; Servizio di Genetica Medica, IRCCS-Casa
Sollievo Soflerenza, San Giovanni Rotondo, Italy;
Dipartimento di Biomedicina dell' Età Evolutiva,
Università degli Studi di Bari, Bari, Italy.
Dehydrated hereditary stomatocytosis (DHS) is a rare genetic
disorder of red cell permeability to cations, leading to a
well-compensated hemolytic anemia. DHS was shown previously to be
associated in some families with a particular form of perinatal edema,
which resolves in the weeks following birth and, in addition, with
pseudohyperkalemia in one kindred. The latter condition was hitherto
regarded as the separate entity, "familial pseudohyperkalemia." DHS
and familial pseudohyperkalemia are thought to stem from the same gene,
mapping to 16q23-q24. This study screened 8 French and 2 American
families with DHS. DHS appeared to be part of a pleiotropic syndrome in some families: DHS + perinatal edema, DHS + pseudohyperkalemia, or DHS + perinatal edema + pseudohyperkalemia. If adequately attended to, the perinatal edema
resolved spontaneously after birth. Logistic regression showed that
increased mean corpuscular volume and mean corpuscular hemoglobin
concentration were the parameters best related to DHS. In patients in
whom cation fluxes were investigated, the temperature dependence of the
monovalent cation leak exhibited comparable curves. Specific
recombination events consistently suggested that the responsible gene
lies between markers D16S402 and D16S3037 (16q23-q24). The 95%
confidence limits (Zmax This article has been cited by other articles:
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| Copyright © 2000 by American Society of Hematology Online ISSN: 1528-0020 | |||||||||
3.02) spanned
almost the complete 9-cM interval between these 2 markers.
