Molecular basis of inherited factor XIII deficiency: identification of multiple mutations provides insights into protein function

Br J Haematol. 1995 Nov;91(3):728-35. doi: 10.1111/j.1365-2141.1995.tb05376.x.


Factor XIII (FXIII) is a zymogen essential for normal haemostasis. In inherited FXIII deficiency the majority of cases show absence of the FXIIIa subunit. Molecular analysis of PCR-amplified FXIIIa subunit exonic regions, and of RT-PCR amplified cDNA from six patients with FXIIIa subunit deficiency, from five unrelated families, has revealed 10 sequence changes: three mutations resulting in abnormal splicing of pre-mRNA, one nonsense mutation, one deletion/insertion change, three point mutations producing Val34Leu, Asn60Lys and Arg408Gln changes, and two silent mutations. In three families the patients are homozygous for a specific deficiency causing mutation, and patients from the remaining two families are compound heterozygotes. Understanding the molecular pathology of the disorder provides insights into the structure-function relationships of the various domains within the FXIII protein. From a clinical point of view, it enables direct diagnosis at the DNA level and may aid the development of FXIII analogues to promote wound healing.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Factor XIII Deficiency / genetics*
  • Female
  • Gene Deletion
  • Homozygote
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Pedigree
  • RNA Splicing
  • RNA, Messenger / genetics
  • Sequence Analysis
  • Transglutaminases / chemistry
  • Transglutaminases / genetics


  • RNA, Messenger
  • Transglutaminases