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Erythrocyte membrane protein alterations underlying clinical heterogeneity in hereditary spherocytosis
Author(s) -
Giudice Emanuele Miraglla,
Iolascon Achille,
Pinto Luciano,
Nobili Bruno,
Perrotta Silverio
Publication year - 1994
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.1365-2141.1994.tb04976.x
Subject(s) - ankyrin , hereditary spherocytosis , spectrin , spherocytosis , medicine , disease , membrane protein , band 3 , erythrocyte membrane , immunology , gastroenterology , pathology , biology , biochemistry , membrane , gene , splenectomy , spleen , cytoskeleton , cell
Summary. Hereditary spherocytosis (HS) is a very heterogenous condition both at clinical and biochemical level. To establish the relationship between these aspects we performed a clinical and biochemical study in 87 Italian HS subjcts. Patients were divided into three groups based on clinical severity (mild, typical and severe) and into five subgroups based on specific membrane abnormalities identified by polyacrylamide gel electrophoresis (isolated spectrin deficiency, spectrin deficiency combined with mild ankyrin reduction, spectin deficiency combined with severe ankyrin reduction, band 3 reduction and isolated protein 4.2 reduction). We were not able to assess any alteration in six HS patients. A good correlation between clinical HS forms and memberane protein defects is shown. We conclude that erythrocyte memberane analysis should be carried out after diagnosis of HS in order to predict the clinical course of the disease.