Coagulation Factor IX Propeptide Mutations Causing Coumarin Hypersensitivity: Identification of Female Alanine-10 Valine Heterozygotes

 

^* These authors contributed equally to this work.

• References

• 1 Chu K, Wu SM, Stanley T, Stafford DW, High KA. A mutation in the pro-peptide of factor IX leads to warfarin sensitivity by a novel mechanism. J Clin Invest. 1996; 98 (Suppl. 07) 1619-25.
• 2 Harbrecht U, Oldenburg J, Weber D, Hanfland P. Increased sensitivity of factor IX to phenprocoumon therapy as a cause of severe bleeding. Ann Hematol 1997; 74 Suppl II A 106.
• 3 Oldenburg J, Quenzel EM, Harbrecht U, Fregin A, Kress W, Muller CR, Hertfelder HJ, Schwaab R, Brackmann HH, Hanfland P. Missense mutations at ALA-10 in the factor IX propeptide: an insignificant variant in normal life but a decisive cause of bleeding during oral anticoagulant therapy. Br J Haematol 1997; 98: 240-4.
• 4 Kriz K, Wuillemin WA, Oldenburg J, Demarmels Biasiutti F, Furlan M, Lämmle B. Rezidivierende schwere Blutungskomplikationen unter oraler Antikoagulation (OAK), bedingt durch die Faktor IX (FIX)-Propeptid-Mutation -10 Ala → Val. Schweiz Med Wochenschr 1998; 128: Suppl 96: 51S.
• 5 Stanley TB, Humphries J, High KA, Stafford DW. Amino acids responsible for reduced affinities of vitamin K-dependent propeptides for the carboxylase. Biochemistry 1999; 38 (Suppl. 47) 15681-7.
• 6 Lay M, Wittwer CT. Real time fluorescence genotyping of factor V Leiden during rapid cycle PCR. Clin Chem 1997; 43: 2262-7.
• 7 Bollhalder M, Mura C, Landt O, Maly FE. LightCycler PCR, Assay for Simultaneous Detection of the H63D and S65C Mutations in the HFE Hemochromatosis Gene Based on Opposite Melting Temperature Shifts. Clin Chem 1999; 45: 2275-8.
• 8 Oldenburg J, Kriz K, Wuillemin WA, Maly FE, von Felten A, Siegemund A, Keeling DM, Baker P, Chu K, Konkle BA, Lämmle B, Albert T. 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). Thromb Haemost 2001; 85: 454-7.
• 9 Von Ahsen N, Schutz E, Armstrong VW, Oellerich M. Rapid detection of prothrombotic mutations of prothrombin (G20210A), factor V (G1691A), and methylenetetrahydrofolate reductase (C677T) by real-time fluorescence PCR with the LightCycler. Clin Chem 1999; 45 (Suppl. 05) 694-6.
• 10 Paul B, Oxley A, Brigham K, Cox T, Hamilton PJ. Factor II, VII, IX and X concentrations in patients receiving long term warfarin. J Clin Pathol 1987; 40 (Suppl. 01) 94-8.
• 11 Peters J, Luddington R, Brown K, Baglin C, Baglin T. Should patients starting anticoagulation therapy be screened for missense mutations at Ala -10 in the factor IX propeptide?. Br J Haematol 1997; 99: 467-8.
• 12 Van der Meer FJ, Vos HL, Rosendaal FR. No indication for APTT screening in patients on oral anticoagulant therapy. Thromb Haemost 1999; 81: 364-6.