A familial factor XIII subunit B deficiency.

Abstract

A 32-year-old woman with a bleeding tendency born of a consanguineous marriage, was found to have factor XIII subunit B deficiency. An abnormally low level of factor XIII activity was initially noticed and this finding led to further studies of the proband and her family. The notable features were: undetectable subunit B of factor XIII in the proband and her brother and reduced levels of subunit B, 34-52%, in her parents and children. The proband's brother had a markedly decreased level of subunit A protein. The level of factor XIII subunit A in platelets of the proband was normal. The half-life of subunit A determined from the disappearance curve of infused factor XIII subunit A concentrate was approximately 3 d and this is the shortest estimate of the half-life of factor XIII to date. From these results, it is suggested that subunit A is unstable in plasma deficient in subunit B and subunit B stabilizes the A protein. This is the first report of congenital deficiency of factor XIII subunit B and this disorder is thought to be inherited as an autosomal recessive trait.

• Authors: M Saito, H Asakura, T Yoshida, K Ito, K Okafuji, T Yoshida, T Matsuda
• Journal: British journal of haematology (Br J Haematol) Vol. 74 Issue 3 Pg. 290-4 (Mar 1990) ISSN: 0007-1048 [Print] England
• PMID: 2334637 (Publication Type: Case Reports, Journal Article)

Chemical References

• Blood Coagulation Factors
• factor XIII subunit A
• Factor XIII
• factor XIIIb

Topics

• Adult
• Blood Coagulation Factors (analysis)
• Blood Coagulation Tests
• Factor XIII (analysis)
• Factor XIII Deficiency (congenital, genetics)
• Family
• Female
• Humans
• Male
• Pedigree