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Origin of Swedish hemophilia B mutations
Kristianstad University, School of Education and Environment, Avdelningen för Naturvetenskap. Kristianstad University, Forskningsmiljön Biomedicin.ORCID iD: 0000-0002-9355-3901
Department of Paediatrics and Malmö Centre for Thrombosis and Haemostasis, Skåne University Hospital, Lund University, Malmö.
Kristianstad University, School of Education and Environment, Avdelningen för Naturvetenskap. Kristianstad University, Forskningsmiljön Biomedicin.
Department of Biology, Lund University.
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2013 (English)In: Journal of Thrombosis and Haemostasis, ISSN 1538-7933, E-ISSN 1538-7836, Vol. 11, no 11, 2001-2008 p.Article in journal (Refereed) Published
Abstract [en]

BACKGROUND: More than 1100 mutations that cause hemophilia B (HB) have been identified. At the same time, specific F9 mutations are present at high frequencies in certain populations, which raise questions about the origin of HB mutations.

OBJECTIVES: To describe the mutation spectrum of all HB families in Sweden and investigate if mutations appearing in several families are due to independent recurrent mutations (RMs) or to a common mutation event (i.e. are identical by descent (IBD)).

PATIENTS/METHODS: The registered Swedish HB population consists of patients from 86 families. Mutations were identified by resequencing and identical haplotypes were defined using 74 markers and a control population of 285 individuals. The ages of IBD mutations were estimated using ESTIAGE.

RESULTS: Out of 77 presumably unrelated patients with substitution mutations, 47 patients (61%) had mutations in common with other patients. Haplotyping of the 47 patients showed that 24 patients had IBD mutations (51%) with estimated ages of between two and 23 generations. A majority of these patients had mild disease. Eight of the 15 mutations observed in more than one family were C>T transitions in CpG sites and all eight were RMs.

CONCLUSIONS: The association of IBD mutations with a mild phenotype is similar to what has been previously observed in hemophilia A. Noteworthy features of the mutations that are common to more than one family are the equal proportions of patients with RM and IBD mutations and the correlation between the occurrence of RMs and C>T transitions at CpG sites.

Place, publisher, year, edition, pages
2013. Vol. 11, no 11, 2001-2008 p.
Keyword [en]
factor IX, founder effect, haplotypes, hemophilia B, mutation
National Category
Hematology
Identifiers
URN: urn:nbn:se:hkr:diva-11227DOI: 10.1111/jth.12410ISI: 000326764800008PubMedID: 24219067OAI: oai:DiVA.org:hkr-11227DiVA: diva2:664402
Available from: 2013-11-15 Created: 2013-11-15 Last updated: 2017-12-06Bibliographically approved

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Halldén, ChristerNilsson, DanielLind-Halldén, ChristinaLidén, Annika C.

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Avdelningen för NaturvetenskapForskningsmiljön Biomedicin
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