Genetic and immunological characterization of fibrinogen inclusion bodies in patients with hepatic fibrinogen storage and liver disease

Daniela Medicina, Giovanna Fabbretti, Stephen O. Brennan, Peter M. George, B. O. Kudryk, Francesco Callea

Research output: Contribution to journalArticle

Abstract

Fibrinogen storage in liver cells can occur under three different morphological inclusions. Type I contain all three fibrinogen chains (Aα, Bβ, and γ) as well as D and E fragments, whereas type H and III lack Bβ as well as D and E fragments. Patients with type I inclusions carry a point mutation (γ284 Gly-Arg). The mutation is not present in patients with type H and III inclusions. These results appear to suggest that the three various phenotypic expressions (i.e., morphological variants) reflect different genetical abnormalities of fibrinogen.

Original languageEnglish
Pages (from-to)522-525
Number of pages4
JournalAnnals of the New York Academy of Sciences
Volume936
Publication statusPublished - 2001

Keywords

  • Fibrinogen
  • Hypofibrinogenemia
  • Immunohistochemistry
  • Liver disease

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

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