FVII Deficiency in Argentina: A Compound Heterozygosis between a New Splicing Region Mutation (IVS2-3C>A) and FVII Central (Phe328Ser)

Journal of Hematology & Transfusion

Science Medcal Central.

Año: 2016 vol. 4 p. 1049 - 1049

ropositus was a 58 year old male from Argentina with a mild bleeding tendency. Parents were not consanguineous. At 46 the propositus underwent removal of a polyp from the colon without bleeding. At 50 underwent surgery for an abdominal hernia under the protection of a FVII concentrate with no complications.PT was prolonged whereas aPTT was normal. FVII activity was 2% of normal, regardless of the thromboplastin used. Factor VII antigen was less than 5% of normal. The asymptomatic mother and the children had borderline FVII levels. Brother and wife were normal. Molecular studies revealed a compound heterozygosis for a new splicing mutation (IVS2-3C>A) and an already known missense one (Phe328Ser).The mother and the children carried either one of the two mutations.The search for rare bleeding disorders in Latin America should be encouraged since there is a discrepancy between the large population and the paucity of reported cases.