PgmNr D1518: Hemophilia, direct diagnosis in Cuba suporting genetic counseling.

Authors:
N. González 1 ; M. Ramírez 2 ; Y. Cordero 2


Institutes
1) Ramón González Coro hospital, Havana, Havana, CU; 2) National Center of Medical Genetics, Havana, Havana, CU.


Keyword: mutational screens

Abstract:

Hemophilia A (HA) is an inherited bleeding disorder linked to the X chromosome caused by mutations in the gene for clotting factor VIII. Prenatal diagnosis in female carriers from families with hemophilia is vital to reduce the incidence of the disease. The main objective of our work is to describe the characteristics of a family with HA in which it was impossible to know the phase linkage and genetic counseling in the prenatal stage was conducted empirically. Subsequently, it could make a direct diagnosis confirmed the hypothesis for the advice and validated the decisions made by the couple together specialists.