Hereditary red cell membrane disorders and laboratory diagnostic testing

M. J. King, A. Zanella

Research output: Contribution to journalArticlepeer-review

Abstract

This overview describes two groups of nonimmune hereditary hemolytic anemias caused by defects in membrane proteins located in distinct layers of the red cell membrane. Hereditary spherocytosis (HS), hereditary elliptocytosis (HE), and hereditary pyropoikilocytosis (HPP) represent disorders of the red cell cytoskeleton. Hereditary stomatocytoses represents disorders of cation permeability in the red cell membrane. The current laboratory screening tests for HS are the osmotic fragility test, acid glycerol lysis time test (AGLT), cryohemolysis test, and eosin-5′-maleimide (EMA)-binding test. For atypical HS, SDS-polyacrylamide gel electrophoresis of erythrocyte membrane proteins is carried out to confirm the diagnosis. The diagnosis of HE/HPP is based on abnormal red cell morphology and the detection of protein 4.1R deficiency or spectrin variants using gel electrophoresis. None of screening tests can detect all HS cases. Some testing centers (a survey of 25 laboratories) use a combination of tests (e.g., AGLT and EMA). No specific screening test for hereditary stomatocytoses is available. The preliminary diagnosis is based on presenting a compensated hemolytic anemia, macrocytosis, and a temperature or time dependent pseudohyperkalemia in some patients. Both the EMA-binding test and the osmotic fragility test may help in differential diagnosis of HS and hereditary stomatocytosis.

Original languageEnglish
Pages (from-to)237-243
Number of pages7
JournalInternational Journal of Laboratory Hematology
Volume35
Issue number3
DOIs
Publication statusPublished - Jun 2013

Keywords

  • Acid glycerol lysis time test
  • Eosin-5′-maleimide binding
  • Hereditary pyropoikilocytosis
  • Hereditary spherocytosis
  • Hereditary stomatocytosis

ASJC Scopus subject areas

  • Clinical Biochemistry
  • Biochemistry, medical
  • Hematology

Fingerprint Dive into the research topics of 'Hereditary red cell membrane disorders and laboratory diagnostic testing'. Together they form a unique fingerprint.

Cite this