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

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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.

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APA

Salazar-Sánchez, L., Jiménez-Cruz, G., Chaverri, P., Schröder, W., Wulff, K., Jiménez-Arce, G., … Herrmann, F. H. (2004). Molecular diagnosis of hemophilia A and B. Report of five families from Costa Rica. Revista de Biologia Tropical, 52(3), 521–530. https://doi.org/10.15517/rbt.v1i2.15292

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