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Severe and moderate hemophilia A: identification of 38 new genetic alterations

Authors: Casaña, Pilar; Cabrera, Noelia; Cid, Ana Rosa; Haya Guaita, Saturnino; Beneyto, Magdalena; Espinós Armero, Carmen Angeles; Cortina, Vicente; +2 Authors

Severe and moderate hemophilia A: identification of 38 new genetic alterations

Abstract

Hemophilia A is an X-linked recessive disorder caused by a lack or decrease of factor VIII activity. Its socio-economic impact is high given its high bleeding expression and treatment cost. Our aim was to establish the mutation of each patient to improve family management. A total of 116 unrelated families with severe and moderate hemophilia A were involved. Non-carriers of intron 22 and intron 1 rearrangements were included in F8 gene screening. Intron 1 and 22 inversion frequencies were 3% and 52.5% respectively. Putative mutations were identified in all the families; 38 were new. The cumulative inhibitor incidence was 22%. Approximately half the families carry non-recurrent mutations, which were unique in around one third. Harmful effects for mutations predicting null alleles are expected. Missense mutation consequences are not easily predictable, despite the help of some bio-informatics tools.

Keywords

Male, Heterozygote, DNA Mutational Analysis, Mutation, Missense, BIOLOGIA CELULAR, Hemophilia A, F8 gene, Humans, Diseases of the blood and blood-forming organs, Genetic Testing, Family Health, Chromosomes, Human, X, Factor VIII, Moderate hemophilia, genètica, Intron 1 inversion, Introns, Phenotype, Chromosome Inversion, Mutation, Female, RC633-647.5, Intron 22 inversion, Severe hemophilia

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
views
OpenAIRE UsageCountsViews provided by UsageCounts
19
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