Abstract

CASTILLO-GONZALEZ, Dunia. Hemophilia: historical and genetic aspects. Rev Cubana Hematol Inmunol Hemoter [online]. 2012, vol.28, n.1, pp.22-33. ISSN 0864-0289.

Hemophilia is a hemorrhagic disorder characterized by decreasing or absence of the procoagulant activity in factor VIII or IX. First descriptions of this disease are as old as mankind itself. During time, hemophilia has been called "royal disease" since different members of European royal families suffered from it. Currently, by molecular studies, it was found the causing genetic defect of this disease in hemophilic male members of Queen Victoria´s family; and it was found that her descendants suffered a severe hemophilia B. This disease phenotype is hemorrhagic; bleeding in different sites is observed which are mainly conditioned by the levels of the deficient factor. There are other factors participating in the variable phenotype characteristic of these patients, such as: intrinsic characteristics of factors VIII/IX, the presence of modifying genes and environment factors which influence on this disease severity. It is revised here the correlation genotype-phenotype in this disease through the most frequent mutations in each type of hemophilia. Concerning the presence of inhibitors, it is highlighted the current evidences in relation with risk factors related to its emergence and molecular aspects present in hemophilia variant B Leyden.

Keywords : Hemophilia; genetic; mutations.