Dehydrated hereditary stomatocytosis (DHS), also designated hereditary xerocytosis, is a chronic congenital haemolytic anaemia, underlain by abnormal transmembrane fluxes of Na+ and K+. The intracellular concentrations of Na+ and K+ are increased and decreased, respectively, though to various degrees. Stomatocytes and other abnormally shaped red cells appear on smears. The osmotic gradient ektacytometric curve is shifted leftward. Cell dehydration, macrocytosis and/or high reticulocyte counts are noted. Electrophoresis of membrane proteins is unremarkable and, in particular, stomatin is present. The inheritance pattern of DHS is invariably dominant, although the severity and even the nature of the symptoms may vary within some particular kindreds. DHS may be associated with hereditary pseudohyperkalaemia (HPHK) and/or perinatal oedema (PO), as has been recently discovered. HPHK, per se, is a lifelong asymptomatic trait characterized by a dramatic elevation of kalaemia when blood is allowed to stand for a few hours at room temperature. Its inheritance pattern is dominant. Modulation of expression within families has not been mentionned to date. PO one is dealing with here has the unique property of spontaneously receding after birth. We have screened a number of families with DHS in order to define the single or multiple facets of the clinical phenotype. We found cases with DHS alone, HPHK alone, DHS + HPHK, DHS + PO, and a case with DHS + HPHK + PO. One bias was that HPHK was not necessarily searched for at the adequate temperature in any particular kindred. Another bias was that PO, having been slim and transient, could recede prior to birth in some cases. Taken together, the clinical genetics led us to postulate that the multiple presentation of DHS might nonetheless stem from mutations all gathered in the gene encoding, presumably, an ion transporter or channel. Based on the study of a large Irish family with isolated DHS, preliminary results indicated that the responsible locus maps to chromosome 16 (16q23-qter).
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