Identification of plasma antibody epitopes and gene abnormalities in Japanese hemophilia A patients with factor VIII inhibitor

Nagoya J Med Sci. 2000 May;63(1-2):25-39.

Abstract

Eleven Japanese hemophilia A patients with anti-factor VIII (FVIII) inhibitors were studied to localize both their inhibitory antibody epitopes and their genotypes. The inhibitor epitopes were studied in nine severe hemophilia A patients by means of a scanning method using the oligopeptide panel covering the FVIII polypeptides without the B domain. The 107 15 mer-peptides were synthesized on solid-phase pins and analyzed for their reactivity with diluted patient plasma. As indicated previously, a series of peptides corresponding to the A2 and C2 domains were recognized by plasma antibodies from 2 patients and 4 patients, respectively. In contrast, all the antibodies bound to several epitopes in the A3 domain, while an epitope 1809-1821 covering the putative factor IX binding site was found in 3 patients. Southern blotting analysis showed that 8 out of 11 patients had either gene deletions or inversions of the FVIII gene, indicating a higher proportion of gross gene alterations in inhibitor-positive hemophilia A patients. However, the correlation of gene abnormality type with epitope location was not fully established.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Amino Acid Sequence
  • Antibodies / blood
  • Case-Control Studies
  • Chromosome Inversion
  • Epitope Mapping
  • Factor VIII / antagonists & inhibitors*
  • Factor VIII / genetics
  • Factor VIII / immunology*
  • Gene Deletion
  • Hemophilia A / genetics*
  • Hemophilia A / immunology*
  • Humans
  • Male
  • Molecular Sequence Data

Substances

  • Antibodies
  • Factor VIII