Red cell membrane alteration involving protein 4.1 and protein 3 in a case of recessively inherited haemolytic anaemia

Eur J Haematol. 1987 May;38(5):447-55. doi: 10.1111/j.1600-0609.1987.tb01443.x.

Abstract

We present 2 siblings with a severe congenital haemolytic anaemia. Red cells displayed a variety of abnormal shapes, including leptocytes, schizocytes and elliptocytes. Repeatedly, skeletal protein 4.1 appeared reduced by 30%. The 4.1a/4.1b ratio was normal despite the haemolytic state. No change could be detected in spectrin, nor in sialoglycoproteins. Band 3 was denser, narrower and displaced downward. The parents, who are consanguineous, were devoid of any obvious biochemical abnormality; however, their red cells were not normal. These 2 cases with reduced protein 4.1 clearly depart from 4.1 (-) hereditary elliptocytosis. The possibility of an altered binding of protein 4.1 to some other membrane component is discussed.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Anemia, Hemolytic / blood*
  • Anemia, Hemolytic / genetics
  • Anion Exchange Protein 1, Erythrocyte / analysis
  • Anion Exchange Protein 1, Erythrocyte / physiology
  • Blood Proteins / deficiency*
  • Cytoskeletal Proteins*
  • Erythrocyte Membrane / analysis*
  • Erythrocytes / cytology
  • Hot Temperature
  • Humans
  • Male
  • Membrane Proteins / analysis
  • Neuropeptides*
  • Pedigree
  • Spectrin / analysis

Substances

  • Anion Exchange Protein 1, Erythrocyte
  • Blood Proteins
  • Cytoskeletal Proteins
  • Membrane Proteins
  • Neuropeptides
  • erythrocyte membrane band 4.1 protein
  • erythrocyte membrane protein band 4.1-like 1
  • Spectrin