Partial deficiency of erythrocyte spectrin in hereditary spherocytosis.

Journal Article

Hereditary 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.

Full Text

Duke Authors

Cited Authors

  • Agre, P; Casella, JF; Zinkham, WH; McMillan, C; Bennett, V

Published Date

  • March 28, 1985

Published In

Volume / Issue

  • 314 / 6009

Start / End Page

  • 380 - 383

PubMed ID

  • 3982506

International Standard Serial Number (ISSN)

  • 0028-0836

Language

  • eng

Conference Location

  • England