%0 Journal Article
%T Hemofilia II. Aspectos moleculares y de gen¨¦tica poblacional
%A Castillo-Gonz¨¢lez
%A Dunia
%J Revista Cubana de Hematolog£¿-a, Inmunolog£¿-a y Hemoterapia
%D 2012
%I Editorial Ciencias M¨¦dicas
%X 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 embri¨®n 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.
%K hemophilia
%K reproductive capacity
%K mutations
%K factor viii
%K factor ix.
%U http://scielo.sld.cu/scielo.php?script=sci_abstract&pid=S0864-02892012000200002&lng=en&nrm=iso&tlng=en