Genetic predisposition to bleeding during oral anticoagulant therapy: Evidence for common founder mutations (FIXVal-10 and FIXThr-10) and an independent CpG hotspot mutation (FIXThr-10)

Thrombosis and Haemostasis

Volumn 85, Issue 3, 2001, Pages 454-457

  Oldenburg, J ^a   Kriz, K ^a   Wuillemin, W A ^a   Maly, F E ^a   Von Felten, A ^a   Siegemund, A ^a   Keeling, D M ^a   Baker, P ^a   Chu, K ^a   Konkle, B A ^a   Lammle B ^a   Albert, T ^a  

^a Inst Exp Haematol/Transfus Med   (Germany)

Author keywords

Factor IX gene; Founder effect; Oral anticoagulation; Warfarin sensitivity

Indexed keywords

ANTICOAGULANT AGENT; BLOOD CLOTTING FACTOR 10; BLOOD CLOTTING FACTOR 9; COUMARIN; HEPARIN; PHENPROCOUMON; PROTHROMBIN; WARFARIN;

ADULT; AGED; ARTICLE; BLEEDING; CLINICAL ARTICLE; COST EFFECTIVENESS ANALYSIS; DRUG MONITORING; DRUG SENSITIVITY; DRUG WITHDRAWAL; EXON; FOUNDER EFFECT; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETIC VARIABILITY; GERMANY; HAPLOTYPE; HETEROZYGOTE; HIGH RISK PATIENT; HUMAN; LUNG EMBOLISM; MALE; MISSENSE MUTATION; PARTIAL THROMBOPLASTIN TIME; PEDIGREE ANALYSIS; POPULATION RESEARCH; PREVALENCE; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SAFETY; SWITZERLAND; UNITED KINGDOM; UNITED STATES;

EID: 0035082551     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0037-1615604     Document Type: Article

References (21)

1. Different intensities of oral anticoagulant therapy in the treatment of proximal-vein thrombosis
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3. A mutation in the propeptide of factor IX leads to warfarin sensitivity by a novel mechanism
4. Missense mutation at Ala-10 in the factor IX-propeptide: An insignificant variant in normal life but a decisive cause for bleeding during oral anticoagulant therapy
5. Ala-10 mutations in the factor IX propeptide and haemorrhage in a patient treated with warfarin
6. Recognition site directing vitamin K-dependent gamma-carboxylation resides on the propeptide of factor IX
7. Effect of the propeptide mutations on post-translational processing of factor IX
8. Amino acids responsible for reduced affinities of vitamin K-dependent propeptides of the carboxylase
9. Severe bleeding in two patients due to increased sensitivity of factor IX activity to phenprocoumon therapy
10. Should patients starting anticoagulant therapy be screened for missense mutations at Ala-10 in the factor IX propeptide
11. No indication for aPTT screening in patients on oral anticoagulant therapy
12. Increased sensitivity of factor IX to phenprocoumon as a cause of bleeding in a patient with antiphospholipid antibody associated thrombosis
13. A clinically useful RFLP in the 5'flanking region of the factor IX gene
14. Carrier detection in haemophilia B using two further intragenic restriction fragment length polymorphism
15. Characterization and use of an intragenic polymorphic marker for detection of carriers of haemophilia B (factor IX deficiency)
16. Detection of polymorphisms at cytosine phosphoguanodine dinucleotides and diagnosis of haemophilia B carriers
17. Report of a joint WHO/WFH meeting on the control of haemophilia: Carrier detection and prenatal diagnosis
18. Hemophilia B: Diagnostic value of RFLP analysis in 19 of the 20 known Finnish families
19. Facile and rapid analysis of three DNA polymorphisms within the human factor IX gene using the polymerase chain reaction
20. The CpG dinucleotide and human genetic disease