A new family with congenital factor XIII deficiency showing a deficit of both subunit A and B. Type I factor XIII deficiency

In this study we present a new case of Factor XIII deficiency. The proposita, a 34 year old woman, showed a deficiency of both subunit a and subunit b, and a moderate bleeding tendency. Because of the concomitant decrease of subunits a and b the proposita is considered to be an example of Type I dis...

Full description

Saved in:

Bibliographic Details
Published in:	Haematologia Vol. 20; no. 3; p. 179
Main Authors:	Capellato, M G, Lazzaro, A R, Marafioti, F, Polato, G, Girolami, A
Format:	Journal Article
Language:	English
Published:	Netherlands 1987
Subjects:	Adult Factor XIII Factor XIII Deficiency - blood Factor XIII Deficiency - classification Factor XIII Deficiency - congenital Factor XIII Deficiency - genetics Female Heterozygote Humans Immunoassay Pedigree Thrombelastography Transglutaminases
Online Access:	Get more information
Tags:	Add Tag No Tags, Be the first to tag this record!

Description
Summary:	In this study we present a new case of Factor XIII deficiency. The proposita, a 34 year old woman, showed a deficiency of both subunit a and subunit b, and a moderate bleeding tendency. Because of the concomitant decrease of subunits a and b the proposita is considered to be an example of Type I disease. Factor XIII levels were less than 10% both as activity and antigen. Several family members showed intermediate levels of both subunit a and b and were asymptomatic. They were considered to be heterozygotes. The hereditary pattern is autosomal incompletely recessive. Type I disease appears much less frequent than Type II.
ISSN:	0017-6559