Indirect molecular diagnosis in a study of families with hemophilia in Pinar del Río
Keywords:
HEMOPHILIA, MOLECULAR DIAGNOSTIC, CRYSTALLIZATION.Abstract
Introduction: hemophilia is a hereditary disease transmitted with an X-linked recessive pattern. Its clinical expression is given by the deficit or absence of coagulation factor activity (factor VIII for Hemophilia A and factor IX for Hemophilia B). It is characterized by a marked genetic heterogeneity, which makes its diagnosis by direct molecular methods complex. In Cuba, indirect studies by linkage technique are available for the characterization of families living with hemophilia.
Objective: to describe the results of indirect molecular studies in families with a history of hemophilia in Pinar del Río.
Methods: an observational, descriptive and transversal research was carried out in the universe of nine families grouping 10 pediatric patients with a diagnosis of hemophilia in Pinar del Río. The sample consisted of five families, four with hemophilia A and one with hemophilia B, which underwent an indirect molecular study for the diagnosis of carriers and prenatal diagnosis.
Results: the five families were informative for the available markers. Nine carrier women were identified and prenatal diagnosis was performed in four fetuses, two of which were diseased, one healthy and the other pending results. The St14 marker proved to be the most informative for hemophilia A.
Conclusions: the possibility of indirect molecular study contributes to the diagnosis, counseling and management of the risk of recurrence of hemophilia in each genealogy in a particular way and is presented as a useful, although elementary, alternative for the genotypic characterization of affected families.
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