Molecular diagnosis of hemophilia A and B. Report of five families from Costa Rica
Rev. biol. trop
;
52(3): 521-530, sept. 2004. tab, ilus
Article
in English
| LILACS
| ID: lil-501729
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.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Factor IX
/
Factor VIII
/
Hemophilia B
/
Hemophilia A
/
Mutation
Type of study:
Diagnostic study
Limits:
Female
/
Humans
/
Male
Country/Region as subject:
Central America
/
Costa Rica
Language:
English
Journal:
Rev. biol. trop
Journal subject:
Biology
/
Tropical Medicine
Year:
2004
Type:
Article
Affiliation country:
Costa Rica
/
Germany
Institution/Affiliation country:
Ernst-Moritz-Arndt-University/DE
/
Hospital México/CR
/
Universidad de Costa Rica/CR
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