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Reduction of membrane band 7 and activation of volume stimulated (K + , Cl − )‐cotransport in a case of congenital stomatocytosis
Author(s) -
Morlé L.,
Pothier B.,
Alloisio N.,
Féo C.,
Garay R.,
Bost M.,
Delaunay J.
Publication year - 1989
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 - 10.1111/j.1365-2141.1989.tb06288.x
Subject(s) - cotransporter , band 3 , erythrocyte membrane , medicine , chemistry , endocrinology , red blood cell , hereditary spherocytosis , biochemistry , membrane , immunology , sodium , organic chemistry
Summary 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/1) and K + low (65 mEq/1). 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.