Enhanced haemolysis with beta-thalassaemia trait due to the unstable beta chain variant, Hb Gunma, accompanied by hereditary elliptocytosis due to protein 4.1 deficiency in a Japanese family

Br J Haematol. 2002 Apr;117(1):193-7. doi: 10.1046/j.1365-2141.2002.03338.x.

Abstract

We identified a Japanese family with a beta-thalassaemia trait and hereditary elliptocytosis (HE). We studied five members of this family. One was normal, one had only the beta-thalassaemia trait, one had heterozygous HE, and two had compound heterozygous beta-thalassaemia trait and HE. The last two had already undergone splenectomy. The molecular profile of beta-thalassaemia was consistent with that of Hb Gunma: codon 127/128CAGGCT(Gln-Ala)--> CCT(Pro). Analysis of erythrocyte membrane proteins revealed a partial deficiency of protein 4.1 in all those with HE, whereas the spectrin content was within the normal range. Each heterozygous family member with either the beta-thalassaemia trait or HE was asymptomatic, whereas the two with both beta-thalassaemia and HE had marked red blood cell deformities and haemolysis. The abnormalities of the red blood cells in patients with the beta-thalassaemia trait might be enhanced by association with HE owing to a protein 4.1 deficiency.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Cytoskeletal Proteins*
  • Elliptocytosis, Hereditary / blood
  • Elliptocytosis, Hereditary / complications*
  • Erythrocytes / ultrastructure
  • Female
  • Hemoglobins, Abnormal*
  • Hemolysis*
  • Heterozygote
  • Humans
  • Japan
  • Male
  • Membrane Proteins / deficiency*
  • Microscopy, Electron, Scanning
  • Neuropeptides*
  • Pedigree
  • beta-Thalassemia / blood
  • beta-Thalassemia / complications*

Substances

  • Cytoskeletal Proteins
  • Hemoglobins, Abnormal
  • Membrane Proteins
  • Neuropeptides
  • erythrocyte membrane band 4.1 protein
  • erythrocyte membrane protein band 4.1-like 1