Resumo

SALAZAR-SANCHEZ, Lizbeth et al. Molecular diagnosis of hemophilia A and B. Report of five families from Costa Rica. Rev. biol. trop [online]. 2004, vol.52, n.3, pp.521-530. ISSN 0034-7744.

Hemophilia Aand B are X-chromosome linked bleeding disorders caused by deficiency of the respective coagulation factor VIII and IX. Affected individuals develop a variable phenotype of hemorrhage caused by a broad range of mutations within the Factor VIII or Factor IX gene. Here, were report the results of the molecular diagnosis in a five Costa Rican families affected with Hemophilia. Methods of indirect and direct molecular diagnosis are applied in three Hemophilia A and two Hemophilia B families from Costa Rica as well as preconditions, practicability and facilities of this diagnosis. In two families with Hemophilia A and both families with Hemophilia B the causative mutation could be detected by Southern blotting, polymerase chain reaction or sequence analysis. One Hemophilia A family could only analyzed by linkage analysis using genomic markers. Rev. Biol. Trop. 52(3): 521-530. Epub 2004 Dic 15.

Palavras-chave : Hemophilia A; Hemophilia B; factor IX; factor VIII; molecular diagnosis; carrier detection.