Congenital FX Deficiency Rio Tercero: A New Heterozygous Missense Mutation (Cys241Gly) with a Potentiating Effect by a Polymorphism (c. 503-57C>T)

• Published in: Cardiovascular & hematological disorders drug targets Vol. 17; no. 2; p. 136
• Main Authors: Girolami, Antonio, Minoldo, Salvador, Ferrari, Silvia, Colussi, Diego, Lombardi, Anna Maria, Guglielmone, Hugo
• Format: Journal Article
• Language: English
• Published: Netherlands 01.08.2017
• Subjects: new mutation; potentiating effect; polymorphism; menorrhagia; plasma; FX deficiency

The aim was to report a new family with congenital FX deficiency. The proposita is a 41 year old female with a moderate bleeding tendency (easy bruising, menorrhagia). Parents were not consanguineous. Family history was positive for a mild bleeding tendency. Coagulation and genetics studies revealed...