title: Reduction of membrane band 7 and activation of volume stimulated (K+, Cl-)-cotransport in a case of congenital stomatocytosis.
abstract: We report on a case of congenital stomatocytosis in a French boy presenting with a haemolytic anaemia requiring splenectomy at the age of 6. The red cells included 15-20% stomatocytes and displayed a marked increase of volume. Their osmotic resistance and density were reduced; however, their deformability was unaltered in isotonicity. Erythrocyte Na+ was high (27 mEq/l) and K+ low (65 mEq/l). The newly described (K+, Cl-)-cotransporter normally triggered by hypo-osmotic stress, was activated to maximal capacity. Membrane band 7 was reduced by 72%. From anamnestic data, the condition appears to have been transmitted by the father. The mother proved to be strictly normal on clinical, morphological, osmotic and biochemical bases. We suggest that the partly missing band 7 may play an important role in the genesis of stomatocytosis.
authors.affiliation: CNRS UA1171, Génétique Moléculaire de la Membrane Erythrocytaire, Faculté de Médecine Grange-Blanche, Lyon, France.
authors.forename: L
authors.initials: L
authors.lastname: Morlé
authors.forename: B
authors.initials: B
authors.lastname: Pothier
authors.forename: N
authors.initials: N
authors.lastname: Alloisio
authors.forename: C
authors.initials: C
authors.lastname: Féo
authors.forename: R
authors.initials: R
authors.lastname: Garay
authors.forename: M
authors.initials: M
authors.lastname: Bost
authors.forename: J
authors.initials: J
authors.lastname: Delaunay
mesh_terms: D000745:Anemia, Hemolytic, Congenital / Q000097:blood*; D001798:Blood Proteins / Q000032:analysis*; D002352:Carrier Proteins / Q000097:blood*; D002648:Child; D004913:Erythrocytes, Abnormal; D006801:Humans; D008297:Male; D008565:Membrane Proteins; D027981:Symporters; D000096922:K Cl- Cotransporters
chemical_list: D001798:Blood Proteins; D002352:Carrier Proteins; D008565:Membrane Proteins; D027981:Symporters; D000096922:K Cl- Cotransporters; C036860:STOM protein, human