title: Molecular diagnosis of hemophilia A and B. Report of five families from Costa Rica.
abstract: Hemophilia A and 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.
authors.affiliation: Centro de Investigación en Hematologia y Trastornos Afines, Facultad de Microbiologia, Universidad de Costa Rica, San José, Costa Rica. lsalazar@cariari.ucr.ac.cr
authors.forename: Lizbeth
authors.initials: L
authors.lastname: Salazar-Sánchez
authors.forename: Guillermo
authors.initials: G
authors.lastname: Jiménez-Cruz
authors.forename: Pilar
authors.initials: P
authors.lastname: Chaverri
authors.forename: Winnie
authors.initials: W
authors.lastname: Schröder
authors.forename: Karin
authors.initials: K
authors.lastname: Wulff
authors.forename: Gerardo
authors.initials: G
authors.lastname: Jiménez-Arce
authors.forename: Miriam
authors.initials: M
authors.lastname: Sandoval
authors.forename: Patricia
authors.initials: P
authors.lastname: Ramírez
authors.forename: F H
authors.initials: FH
authors.lastname: Herrmann
mesh_terms: D015139:Blotting, Southern; D003364:Costa Rica; D005164:Factor IX / Q000235:genetics*; D005169:Factor VIII / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D006467:Hemophilia A / Q000175:diagnosis* / Q000235:genetics; D002836:Hemophilia B / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction
chemical_list: D005819:Genetic Markers; D005169:Factor VIII; D005164:Factor IX