Hemofilia II. Aspectos moleculares y de genética poblacional

the sporadic hemophilia prevalence was estimated more than 40 years ago and it was shown that approximately a third of the cases are novo. most of the mutations that occur in hemophilia are produced during the male spermatogenesis; in other cases, they occur in early stages of the embrión development or in the mother a germinal mutation. the x-cromosoma- inactivation process is at random. extended studies have shown that male meiosis are more frequent than female ones, with a global proportion of 3,5/1, specially introns inversions 22 and 1. there were revised molecular and biochemical aspects of factors viii and ix. we ruled out the importance of b domain in factor viii, which contributes to multiple essential functions, as the quality control of synthesis, secretion, union with platelet phospholipids, inactivation and complete clearance of the molecule.