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dc.contributor.authorBennett, Vann
dc.contributor.authorMcMillan, Campbell
dc.contributor.authorCasella, James F.
dc.contributor.authorZinkham, William H.
dc.contributor.authorAgre, Peter
dc.date.accessioned2010-05-13T13:49:01Z
dc.date.available2010-05-13T13:49:01Z
dc.date.issued1985-03-28
dc.identifier.citationNature 1985 Mar 28-Apr 3;314(6009):380-3. http://www.nature.com/nature/journal/v314/n6009/abs/314380a0.htmlen_US
dc.identifier.urihttp://jhir.library.jhu.edu/handle/1774.2/34109
dc.description.abstractHereditary spherocytosis (HS) is a common, clinically heterogeneous haemolytic anaemia in which the primary erythrocyte defect is believed to be some abnormality in the spectrin-actin membrane skeleton, leading to loss of surface membrane. Recessively inherited spectrin deficiency with extreme erythrocyte fragility and spherocytosis has been identified in certain mutant mice and two severely anaemic humans. Although suspected, deficiency of spectrin has not been demonstrated in less severe forms of human HS. We not report the quantitation of erythrocytes 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.en_US
dc.language.isoen_USen_US
dc.publisherNature Publishing Groupen_US
dc.subjectSpherocytosisen_US
dc.subjectHereditary/geneticsen_US
dc.subjectSpectrin/deficiencyen_US
dc.subjectErythocytes/ultrastructureen_US
dc.titlePartial deficiency of erythrocyte spectrin in hereditary spherocytosis.en_US
dc.typeArticleen_US


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