Bone health in symptomatic carriers of haemophilia A: a protocol for a multicentre prospective matched-cohort study

Introduction Haemophilia A is an X linked inherited bleeding disorder, caused by a decrease in coagulation factor VIII. Persons with haemophilia experience repeated musculoskeletal bleeding, which can lead to decreased range of motion, irreversible joint damage, low bone mineral density (BMD), and a...

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Main Authors: Rosane Nisenbaum, Grace H Tang, Erin Norris, Jessica Petrucci, Paula D James, Adrienne Lee, Man-Chiu Poon, Georgina Floros, Laurence Boma-Fischer, Jerry Teitel, Michelle Sholzberg
Format: Article
Language:English
Published: BMJ Publishing Group 2019-12-01
Series:BMJ Open
Online Access:https://bmjopen.bmj.com/content/9/12/e032891.full
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author Rosane Nisenbaum
Grace H Tang
Erin Norris
Jessica Petrucci
Paula D James
Adrienne Lee
Man-Chiu Poon
Georgina Floros
Laurence Boma-Fischer
Jerry Teitel
Michelle Sholzberg
author_facet Rosane Nisenbaum
Grace H Tang
Erin Norris
Jessica Petrucci
Paula D James
Adrienne Lee
Man-Chiu Poon
Georgina Floros
Laurence Boma-Fischer
Jerry Teitel
Michelle Sholzberg
author_sort Rosane Nisenbaum
collection DOAJ
description Introduction Haemophilia A is an X linked inherited bleeding disorder, caused by a decrease in coagulation factor VIII. Persons with haemophilia experience repeated musculoskeletal bleeding, which can lead to decreased range of motion, irreversible joint damage, low bone mineral density (BMD), and are at greater risk for osteoporosis. Women heterozygous for this mutation, also known as haemophilia A carriers, can have bleeding symptoms and even experience joint bleeding evidenced by radiological soft tissue and osteochondral changes. The prevalence of low BMD as a risk factor for osteoporosis has never been evaluated in carriers of haemophilia, and given the recent findings which suggest subclinical musculoskeletal bleeding in carrier women, we hypothesise that they too are at risk of impaired bone health.Methods and analysis This is a national multicentre prospective matched-cohort study to compare BMD T-scores among symptomatic haemophilia A carriers, 50 years of age or older, with age-matched and body mass index-matched non-carriers (1:1). A total of 40 symptomatic carriers and 40 matched non-carriers will be recruited from St. Michael’s Hospital, Kingston General Hospital in Ontario, Canada and Foothills Medical Centre in Alberta, Canada. Multivariable linear regression models will be used to estimate the effect of haemophilia carriership on BMD T-scores, adjusting for age, body mass index and other relevant covariates.Ethics and dissemination The protocol was designed and will be conducted in compliance with applicable laws, rules and regulations. Research ethics approval was obtained from St. Michael’s Hospital, Foothills Medical Centre, and Kingston General Hospital. Findings will be presented at international venues such as the American Society of Haematology and the World Federation of Haemophilia World Congress. The authors of this study will seek publication in journals such as Blood, Journal of Thrombosis and Haemostasis, American Journal ofHematology and British Journal ofHaematology.
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spelling doaj-art-693de74e6fee40f585701a1e22f514e92024-12-01T15:45:09ZengBMJ Publishing GroupBMJ Open2044-60552019-12-0191210.1136/bmjopen-2019-032891Bone health in symptomatic carriers of haemophilia A: a protocol for a multicentre prospective matched-cohort studyRosane Nisenbaum0Grace H Tang1Erin Norris2Jessica Petrucci3Paula D James4Adrienne Lee5Man-Chiu Poon6Georgina Floros7Laurence Boma-Fischer8Jerry Teitel9Michelle Sholzberg10Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, CanadaHematology/Oncology, St. Michael’s Hospital, Toronto, Ontario, CanadaRheumatology, St. Michael`s Hospital, Toronto, Ontario, CanadaHematology/Oncology, St. Michael’s Hospital, Toronto, Ontario, CanadaHematology, Kingston General Hospital, Kingston, Ontario, CanadaHematology, University of Calgary, Calgary, Alberta, CanadaHematology, University of Calgary, Calgary, Alberta, CanadaHematology/Oncology, St. Michael’s Hospital, Toronto, Ontario, CanadaHematology/Oncology, St. Michael’s Hospital, Toronto, Ontario, CanadaHematology/Oncology, St. Michael’s Hospital, Toronto, Ontario, CanadaMedicine, University of Toronto, Toronto, Ontario, CanadaIntroduction Haemophilia A is an X linked inherited bleeding disorder, caused by a decrease in coagulation factor VIII. Persons with haemophilia experience repeated musculoskeletal bleeding, which can lead to decreased range of motion, irreversible joint damage, low bone mineral density (BMD), and are at greater risk for osteoporosis. Women heterozygous for this mutation, also known as haemophilia A carriers, can have bleeding symptoms and even experience joint bleeding evidenced by radiological soft tissue and osteochondral changes. The prevalence of low BMD as a risk factor for osteoporosis has never been evaluated in carriers of haemophilia, and given the recent findings which suggest subclinical musculoskeletal bleeding in carrier women, we hypothesise that they too are at risk of impaired bone health.Methods and analysis This is a national multicentre prospective matched-cohort study to compare BMD T-scores among symptomatic haemophilia A carriers, 50 years of age or older, with age-matched and body mass index-matched non-carriers (1:1). A total of 40 symptomatic carriers and 40 matched non-carriers will be recruited from St. Michael’s Hospital, Kingston General Hospital in Ontario, Canada and Foothills Medical Centre in Alberta, Canada. Multivariable linear regression models will be used to estimate the effect of haemophilia carriership on BMD T-scores, adjusting for age, body mass index and other relevant covariates.Ethics and dissemination The protocol was designed and will be conducted in compliance with applicable laws, rules and regulations. Research ethics approval was obtained from St. Michael’s Hospital, Foothills Medical Centre, and Kingston General Hospital. Findings will be presented at international venues such as the American Society of Haematology and the World Federation of Haemophilia World Congress. The authors of this study will seek publication in journals such as Blood, Journal of Thrombosis and Haemostasis, American Journal ofHematology and British Journal ofHaematology.https://bmjopen.bmj.com/content/9/12/e032891.full
spellingShingle Rosane Nisenbaum
Grace H Tang
Erin Norris
Jessica Petrucci
Paula D James
Adrienne Lee
Man-Chiu Poon
Georgina Floros
Laurence Boma-Fischer
Jerry Teitel
Michelle Sholzberg
Bone health in symptomatic carriers of haemophilia A: a protocol for a multicentre prospective matched-cohort study
BMJ Open
title Bone health in symptomatic carriers of haemophilia A: a protocol for a multicentre prospective matched-cohort study
title_full Bone health in symptomatic carriers of haemophilia A: a protocol for a multicentre prospective matched-cohort study
title_fullStr Bone health in symptomatic carriers of haemophilia A: a protocol for a multicentre prospective matched-cohort study
title_full_unstemmed Bone health in symptomatic carriers of haemophilia A: a protocol for a multicentre prospective matched-cohort study
title_short Bone health in symptomatic carriers of haemophilia A: a protocol for a multicentre prospective matched-cohort study
title_sort bone health in symptomatic carriers of haemophilia a a protocol for a multicentre prospective matched cohort study
url https://bmjopen.bmj.com/content/9/12/e032891.full
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