Partial deficiency of erythrocyte spectrin in hereditary spherocytosis

Hereditary spherocytosis (HS) is a common, clinically heterogeneous haemolytic anaemia 1,2 in which the primary erythrocyte defect is believed to be some abnormality in the spectrin–actin membrane skeleton 3,4 , leading to loss of surface membrane 5 . Recessively inherited spectrin deficiency with e...

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Bibliographic Details
Published in:Nature (London) 1985-03, Vol.314 (6009), p.380-383
Main Authors: Agre, Peter, Casella, James F, Zinkham, William H, McMillan, Campbell, Bennett, Vann
Format: Article
Language:English
Subjects:
Anemias. Hemoglobinopathies
Biological and medical sciences
Diseases of red blood cells
Erythrocytes - analysis
Erythrocytes - ultrastructure
Hematologic and hematopoietic diseases
Humanities and Social Sciences
Humans
letter
Medical sciences
multidisciplinary
Osmotic Fragility
Radioimmunoassay
Science
Science (multidisciplinary)
Spectrin - deficiency
Spectrin - genetics
Spherocytosis, Hereditary - genetics
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Summary:Hereditary spherocytosis (HS) is a common, clinically heterogeneous haemolytic anaemia 1,2 in which the primary erythrocyte defect is believed to be some abnormality in the spectrin–actin membrane skeleton 3,4 , leading to loss of surface membrane 5 . Recessively inherited spectrin deficiency with extreme erythrocyte fragility and spherocytosis has been identified in certain mutant mice 6,7 and two severely anaemic humans 8 . Although suspected, deficiency of spectrin has not been demonstrated in less severe forms of human HS 9 . We now report the quantitation of erythrocyte spectrin by radioimmunoassay. We found that normal erythrocytes contained 240,000 copies of spectrin heterodimer, whereas erythrocytes from 14 patients with a variety of types of HS were all partially deficient in spectrin (range 74,000–200,000 copies), the magnitude of the deficiency correlating with the severity of the disease. Spectrin deficiency of varying degrees is common in HS and probably represents the principal structural defect leading to loss of surface membrane.
ISSN:0028-0836
1476-4687
DOI:10.1038/314380a0