Assuntos

Deficiência do Fator XIII , Fator XIII/genética , Deficiência do Fator XIII/diagnóstico , Deficiência do Fator XIII/genética , Humanos , Qualidade de Vida

RESUMO

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.

Assuntos

Deficiência do Fator XIII/complicações , Doenças de von Willebrand/complicações , Deficiência do Fator XIII/sangue , Deficiência do Fator XIII/diagnóstico , Feminino , Humanos , Lactente , Masculino , Doenças de von Willebrand/sangue , Doenças de von Willebrand/diagnóstico