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Congenital factor XIII deficiency associated with von willebrand disease
Author(s) -
Grand B.,
Blanco A.,
Riveros D.,
Ventura A.,
Maugeri N.,
Woods A.,
Lazzari M.
Publication year - 1990
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.2830350313
Subject(s) - von willebrand disease , medicine , von willebrand factor , factor xiii deficiency , complication , coagulopathy , coagulation , factor xiii , heterozygote advantage , gastroenterology , surgery , pediatrics , fibrinogen , platelet , allele , biochemistry , chemistry , gene
A boy with umbilical bleeding and severe hemorrhages after minor trauma, without family bleeding history, was studied. Coagulation tests showed abnormalities in FXIII subunits and FVIII/vWF complex. Both parents presented results compatible with a heterozygote state for FXIII deficiency and the father had abnormalities of FVIII/vWF. The propositus was diagnosed as congenital FXIII deficiency associated with vWD. No severe hemorrhagic complication was observed after a prophylactic regimen with cryoprecipitates.