Open AccessIdentification of eight novel coagulation factor XIII subunit A mutations: implied consequences for structure and function
Author(s) -
Vytautas Ivaškevičius,
Arijit Biswas,
Carville G. Bevans,
Verena Schroeder,
Hans Peter Köhler,
Hannelore Rott,
Susan Halimeh,
Petro E. Petrides,
H Lenk,
Manuele Krause,
Bruno Miterski,
Ursula Harbrecht,
Johannes Oldenburg
Publication year - 2010
Publication title -
haematologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.782
H-Index - 142
eISSN - 1592-8721
pISSN - 0390-6078
DOI - 10.3324/haematol.2009.017210
Subject(s) - missense mutation , factor xiii , factor xiii deficiency , compound heterozygosity , nonsense mutation , genetics , factor ix , allele , factor xiiia , coagulopathy , medicine , mutation , gene , biology , immunohistochemistry , fibrinogen
Severe hereditary coagulation factor XIII deficiency is a rare homozygous bleeding disorder affecting one person in every two million individuals. In contrast, heterozygous factor XIII deficiency is more common, but usually not associated with severe hemorrhage such as intracranial bleeding or hemarthrosis. In most cases, the disease is caused by F13A gene mutations. Causative mutations associated with the F13B gene are rarer.