ERYTHROCYTE-MEMBRANE PROTEIN ALTERATIONS UNDERLYING CLINICAL HETEROGENEITY IN HEREDITARY SPHEROCYTOSIS

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 Ita lian HS subjects. Patients were divided into three groups based on cli nical severity (mild, typical and severe) and into five subgroups base d on specific membrane abnormalities identified by polyacrylamide gel electrophoresis (isolated spectrin deficiency, spectrin deficiency com bined with mild ankyrin reduction, spectrin deficiency combined with s evere ankyrin reduction, band 3 reduction and isolated protein 4.2 red uction). We were not able to assess any alteration in six HS patients. A good correlation between clinical HS forms and membrane protein def ects is shown. We conclude that erythrocyte membrane analysis should b e carried out after diagnosis of HS in order to predict the clinical c ourse of the disease.