Molecular diagnosis of hemophilia A and B. Report of five families from Costa Rica.
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.
Salazar-Sánchez
Lizbeth
L
Centro de Investigación en Hematologia y Trastornos Afines, Facultad de Microbiologia, Universidad de Costa Rica, San José, Costa Rica. lsalazar@cariari.ucr.ac.cr
Jiménez-Cruz
Guillermo
G
Chaverri
Pilar
P
Schröder
Winnie
W
Wulff
Karin
K
Jiménez-Arce
Gerardo
G
Sandoval
Miriam
M
Ramírez
Patricia
P
Herrmann
F H
FH
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
D005819:Genetic Markers; D005169:Factor VIII; D005164:Factor IX