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  • Title: [Determination of spectrin in erythrocytes: an important aid in the diagnosis of hereditary spherocytosis].
    Author: van Zwieten R, Bolscher BG, Schouten-van Meeteren AY, Hoffmann JJ, Roos D.
    Journal: Ned Tijdschr Geneeskd; 1995 Nov 04; 139(44):2256-61. PubMed ID: 7501052.
    Abstract:
    OBJECTIVE: Assay of spectrin in erythrocytes as a diagnostic test in hereditary spherocytosis (HS). DESIGN: Validation of a diagnostic test. SETTING: Central Laboratory of the Netherlands Red Cross Blood Transfusion Service in Amsterdam, the Netherlands. METHOD: A radiolabelled rabbit antiserum against human spectrin was used to determine the amount of spectrin in erythrocytes from 64 patients with proven or supposed HS, suffering from inborn, sometimes familial anaemia and a decreased osmotic resistance of the erythrocytes. These amounts of spectrin were compared with those of 12 patients with decreased osmotic resistance suffering from haemolytic anaemia of unknown cause, 16 patients with various other erythrocyte disorders and 30 healthy blood donors. RESULTS: The intradonor and interdonor variations in the amount of spectrin in erythrocytes from healthy blood donors were found to be less than 7%. In 56 of the 64 patients with HS (88%), the erythrocytes contained less than 86% of the normal amount of spectrin. A similar result was found in 4 of the 12 patients suffering from non-characterised haemolytic anaemia (33%). In contrast, a normal amount of spectrin was found in the erythrocytes of patients with other erythrocytic disorders. CONCLUSION: The radio-immunoassay of spectrin in erythrocytes is more specific for the diagnosis of HS than the osmotic fragility test of the erythrocytes. The normal amount of spectrin found in 8 of the 64 patients possibly suffering from HS may be due to a rare molecular origin of HS not leading to a decreased spectrin level or may be related to other causes of anaemia than HS.
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