Variability in bleeding phenotype in Amish carriers of haemophilia B with the 31008 C-->T mutation

Haemophilia : the Official Journal of the World Federation of Hemophilia
A SharathkumarA Shapiro

Abstract

The aim of this study was to characterize the variability of bleeding phenotype and its association with plasma factor IX coagulant activity (FIX:C) in haemophilia B carriers in a large Amish pedigree with a unifying genetic mutation, C-to-T transition at base 31008 of the factor IX gene (Xq27.1-27.2). A cross-sectional survey of haemophilia B carriers included a multiple choice questionnaire evaluating symptoms of mucocutaneous bleeding, joint bleeding and bleeding after haemostatic stress [menstruation, postpartum haemorrhage (PPH), dental extractions and invasive surgeries]. Severity of bleeding was graded as 0 to 4, 0 being no bleeding whereas 4 being severe bleeding. Association between total bleeding scores and the FIX:C was evaluated. Sixty-four haemophilia B carriers participated in this study. Median age: 18 years (range 1-70 years); median bleeding score: 1 (range 0-8). Besides PPH, isolated symptoms of bruising, epistaxis, menorrhagia and postsurgical bleeding including dental extraction were not associated with lower FIX:C. Bleeding score >/=3 was associated with involvement of at least two bleeding sites and a lower mean FIX:C of 42 +/- 10.3% (95% CI 36.4-47.7) while a score >3 had involvement of </=2 sites and hig...Continue Reading

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Citations

Feb 11, 2014·Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis·Anna OlssonFariba Baghaei
Dec 19, 2015·European Journal of Haematology·Roshni Kulkarni
Feb 8, 2016·American Journal of Hematology·Doris QuonJennifer Maahs
Nov 3, 2011·Haemophilia : the Official Journal of the World Federation of Hemophilia·L A ValentinoX Song
Apr 9, 2015·Journal of Thrombosis and Haemostasis : JTH·A C Goodeve
Nov 28, 2017·Haemophilia : the Official Journal of the World Federation of Hemophilia·J StaberR F Sidonio
Sep 29, 2020·Haemophilia : the Official Journal of the World Federation of Hemophilia·Roseline d'OironAndra H James
Oct 1, 2021·International Journal of Laboratory Hematology·Neha AgrawalKausik Mandal
Oct 10, 2021·Journal of Thrombosis and Haemostasis : JTH·Alessio BranchiniUNKNOWN GePKHIS Study Group of AICE

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