Article
A new case of combined factor V and factor VIII deficiency further suggests that the LMAN1 M1T mutation is a frequent cause in Italian patients.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Mar 2007
D'Ambrosio Rosa, Santacroce Rosa, Di Perna Pasquale, Sarno Michela, Romondia Arturo, Margaglione Maurizio
Abstract excerpt
Combined factor V and factor VIII deficiency (F5F8D) is an extremely rare worldwide congenital hemorrhagic disorder that is more prevalent in the Mediterranean area. We report the clinical presentations and the identification of a LMAN1 mutation in a 3-year-old Italian boy who was diagnosed with F5F8D. The mutation identified (M1T) has already been found in several Italian patients. Since the LMAN1 M1T mutation...
Topics
- Child, Preschool
- Factor V Deficiency
- Factor VII Deficiency
- Humans
- Italy
- Male
- Mannose-Binding Lectins
- Membrane Proteins
- Mutation