Genetic analysis of haemophilia A in Bulgaria View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2004-12

AUTHORS

Rumena Petkova, Stoian Chakarov, Ivo Kremensky

ABSTRACT

BACKGROUND: Haemophilias are the most common hereditary severe disorders of blood clotting. In families afflicted with heamophilia, genetic analysis provides opportunities to prevent recurrence of the disease. This study establishes a diagnostical strategy for carriership determination and prenatal diagnostics of haemophilia A in Bulgarian haemophilic population. METHODS: A diagnostical strategy consisting of screening for most common mutations in the factor VIII gene and analysis of a panel of eight linked to the factor VIII gene locus polymorphisms was established. RESULTS: Polymorphic analysis for carrier status determination of haemophilia A was successful in 30 families out of 32 (94%). Carrier status was determined in 25 of a total of 28 women at risk (89%). Fourteen prenatal diagnoses in women at high risk of having a haemophilia A - affected child were performed, resulting in 6 healthy boys and 5 girls. CONCLUSION: The compound approach proves to be a highly informative and cost-effective strategy for prevention of recurrence of haemophilia A in Bulgaria. DNA analysis facilitates carriership determination and subsequent prenatal diagnosis in the majority of Bulgarian families affected by haemophilia A. More... »

PAGES

2

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/1471-2326-4-2

DOI

http://dx.doi.org/10.1186/1471-2326-4-2

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1036305978

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/15035673


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