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Semin Thromb Hemost 1996; 22(5): 385-391
DOI: 10.1055/s-2007-999036
Copyright © 1996 by Thieme Medical Publishers, Inc.

The Normal and Abnormal Genes of the a and b Subunits in Coagulation Factor XIII

Akitada Ichinose, Tomonori Izumi, Teruto Hashiguchi
  • From the Department of Molecular Patho-Biochemistry, Yamagata University School of Medicine, Yamagata, Japan.
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Publication History

Publication Date:
08 February 2008 (online)

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Abstract

Factor XIII consists of two catalytic a and two noncatalytic b subunits. The gene for the a subunit is located on chromosome 6, the gene for the b subunit on chromosome 1. Both genes have been characterized. There are several different allelic forms of the a subunit in the normal population and some microheterogeneity for the b subunit. Most patients with congenital factor XIII deficiency lack the a subunit in plasma; few patients appear to have a complete lack of the b subunit. The genes from patients with factor XIII deficiencies were obtained and examined. Based on these analyses a new genetic classification for factor XIII deficiency is proposed: a deficiency of the a subunit (formerly termed type II), a deficiency of the b subunit (formerly known as type I), and a possible combined deficiency of both a and b subunits.

Key words:

Transglutaminase - Sushi domain - gene structure - factor XIII deficiencies - genetic analyses

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