Molecular diagnosis of hemophilia A and B. Report of five families from Costa Rica

• Published in: Revista de biología tropical Vol. 52; no. 3; pp. 521 - 530
• Main Authors: Salazar-Sánchez, Lizbeth, Jiménez-Cruz, Guillermo, Chaverri, Pilar, Schröder, Winnie, Wulff, Karin, Jiménez-Arce, Gerardo, Sandoval, Miriam, Ramírez, Patricia, Herrmann, F H
• Format: Journal Article
• Language: English; Portuguese
• Published: Costa Rica Universidad de Costa Rica 01.09.2004
• Subjects: Biodiversity Conservation; Biology; Blotting, Southern; carrier detection; Costa Rica; detección de portadores; diagnóstico molecular; factor IX; Factor IX - genetics; factor VIII; Factor VIII - genetics; Female; Genetic Markers; Hemofilia A; Hemofilia B; Hemophilia A; Hemophilia A - diagnosis; Hemophilia A - genetics; Hemophilia B; Hemophilia B - diagnosis; Hemophilia B - genetics; Humans; Male; molecular diagnosis; Mutation - genetics; Pedigree; Polymerase Chain Reaction; Costa Rica; factor IX; diagnóstico molecular; Hemophilia B; Hemofilia B; factor VIII; carrier detection; Hemophilia A; Hemofilia A; molecular diagnosis; detección de portadores
• ISSN: 0034-7744; 2215-2075

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.