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Thromb Haemost 1994; 72(06): 799-803
DOI: 10.1055/s-0038-1648964
Original Article
Schattauer GmbH Stuttgart

A Single Base Pair Deletion in the Promoter Region of the Factor IX Gene Is Associated with Haemophilia B

Adrian J Hall
The Section of Molecular Genetics, Department of Medicine and Pharmacology, Royal Hallamshire Hospital, Sheffield, UK
,
Ampaiwan Chuansumrit
1   The Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
,
Ian R Peake
The Section of Molecular Genetics, Department of Medicine and Pharmacology, Royal Hallamshire Hospital, Sheffield, UK
,
Peter R Winship
The Section of Molecular Genetics, Department of Medicine and Pharmacology, Royal Hallamshire Hospital, Sheffield, UK
› Author Affiliations
Further Information

Publication History

Received 13 April 1994

Accepted after resubmission 31 August 1994

Publication Date:
06 July 2018 (online)

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Summary

Patients with the haemophilia B Leyden phenotype show a distinct pattern of factor IX expression characterized by a post-pubertal increase in FIX levels and the remission of clinical symptoms in adult life. This phenotype has previously been linked to single base mutations within transcription factor binding sites in a region of ∼40 bp around the major start point of transcription of the FIX gene. Here we report a novel mutation in this region within the transcription factor C/EBP binding site at +1 to +18. The mutation is a single base pair deletion from a triplet of thymine residues at +6 to +8. We show that the extent to which this mutation disrupts the binding of C/EBP to its binding site is less marked than the disruption caused by the +13 A→G mutation of FIX Norwich (1). This correlates with age-matched phenotypic data we have available for the patient reported here and that of FIX Norwich.

 

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