Revista Cubana de Hematología, Inmunología y Hemoterapia
version ISSN 0864-0289
CASTILLO-GONZALEZ, Dunia. Hemophilia II. Molecular and population genetics. Rev Cubana Hematol Inmunol Hemoter [online]. 2012, vol.28, n.2, pp. 111-119. ISSN 0864-0289.
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.
Keywords : Hemophilia; reproductive capacity; mutations; factor VIII; factor IX.