No abstract

Congenital FVII deficiency is the most frequently encountered defect among the Rare Bleeding Disorders (RBD). Geographical distribution is uneven but it has been described worldwide. Factor FVII Padua (Arg304Gln) is a Type 2 variant with shows FVII activity levels which varies with the origin of the thromboplastin used in the assay system. It is low (less than 5%) using rabbit brain thromboplastins, but normal (100%) with OX-brain preparations. Thromboplastins of human origin (placenta) or human recombinant reagents yield intermediate levels (40-50% of normal). FVII antigen is normal. FVII Padua has been described in many parts of the world but it seems rare in Latin America where only a few heterozygotes cases have been described but no homozygotes. We described here the first FVII Padua case seen in Argentina and, probably, in Latin America. The proposita is a 64 year old female who had a Spanish background and no bleeding tendency. She was found to be homozygote for the Arg304Gln mutation whereas her daughter was heterozygote and also asymptomatic. The reasons for the rarity of this mutation in Argentina and in Latin America are discussed.