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Investigation of disease-associated factors in haemophilia A patients without detectable mutations
Kristianstad University, School of Education and Environment, Avdelningen för Naturvetenskap. Kristianstad University, Forskningsmiljön Biomedicin.ORCID iD: 0000-0002-9355-3901
Departments of Pediatrics and Malmö Centre for Thrombosis and Haemostasis, Skåne University Hospital, Malmö.
Departments of Pediatrics and Malmö Centre for Thrombosis and Haemostasis, Skåne University Hospital, Malmö.
Kristianstad University, School of Education and Environment, Avdelningen för Naturvetenskap. Kristianstad University, Forskningsmiljön Biomedicin.
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2012 (English)In: Haemophilia, ISSN 1351-8216, E-ISSN 1365-2516, Vol. 18, no 3, e132-e137 p.Article in journal (Refereed) Published
Abstract [en]

To investigate disease causing mechanism in haemophilia A patients without detectable mutation. Screening for F8 mutations in 307 haemophilia A patients using: re-sequencing and inversion PCR, reverse transcription (RT-PCR) of mRNA, MLPA analysis, haplotyping using SNP and microsatellite markers. No F8 mutations were detected in 9 of the 307 patients (2.9%) using re-sequencing and inversion PCR. MLPA analysis detected duplication in exon 6 in one patient and RT-PCR showed no products for different regions of mRNA in four other patients, indicating failed transcription. No obvious associations were observed between the phenotypes of the nine patients, their F8 haplotypes and the putative mutations detected. The mutation-positive patients carrying the same haplotypes as the mutation-negative patients show a multitude of different mutations, emphasizing the lack of associations at the haplotype level. VWF mutation screening and factor V measurements ruled out type 2N VWD and combined factor V and VIII deficiency respectively. To further investigate a possible role for FVIII interacting factors the haplotypes/diplotypes of F2, F9, F10 and VWF were compared. The nine patients had no specific haplotype/diplotype combination in common that can explain disease. Duplications and faulty transcription contribute to the mutational spectrum of haemophilia A patients where conventional mutation screening fail to identify mutations.

Place, publisher, year, edition, pages
2012. Vol. 18, no 3, e132-e137 p.
Keyword [en]
factor VIII, haemophilia A, mRNA, mutation, SNP
National Category
Medical and Health Sciences
Identifiers
URN: urn:nbn:se:hkr:diva-9299DOI: 10.1111/j.1365-2516.2011.02737.xISI: 000303194200023PubMedID: 22221887OAI: oai:DiVA.org:hkr-9299DiVA: diva2:527233
Available from: 2012-05-18 Created: 2012-05-18 Last updated: 2014-06-10Bibliographically approved

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