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  • Title: [Relation between types of erythrocyte membrane defects and the clinical picture in hereditary spherocytosis].
    Author: Brabec V, Palek J, Petrtýlová K, Cermák J, Jarolím P.
    Journal: Vnitr Lek; 1997 Feb; 43(2):91-4. PubMed ID: 9245075.
    Abstract:
    From total number of 130 patients with hereditary spherocytosis from 75 families in 119 patients from 69 families a defect of membrane proteins was detected. In 23 families (33.3%) a spectrin defect was involved, in 32 families (46.3%) a combined defect of spectrin and ancyrine and in 14 families (20.3%) a defect of band 3 proteins. Investigation of the membrane defect and the clinical and laboratory picture revealed that the band 3 protein defect of spectrin and ancyrine. There are significant differences in the clinical picture of the two latter defects.
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