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Joint comorbidities among Swedish carriers of haemophilia: A register-based cohort study over 22 years

Journal article
Authors M. Osooli
S. M. Donfield
K. S. Carlsson
Fariba Baghaei
M. Holmstrom
E. Berntorp
J. Astermark
Published in Haemophilia
Volume 25
Issue 5
Pages 845-850
ISSN 1351-8216
Publication year 2019
Published at Institute of Medicine
Pages 845-850
Language en
Keywords carriers of haemophilia, cohort studies, hospitalization, joint diseases, joint surgery, bleeding phenotype, Hematology
Subject categories Hematology


Background A significant fraction of women with an impaired factor VIII or IX gene in the X chromosome, carriers of haemophilia, will have clotting factor activities corresponding to those seen in males with non-severe haemophilia, hence, experience an increased bleeding tendency. Data describing the long-term joint outcomes among carriers are limited. We compared the age at onset, frequency of joint-related diagnoses as well as joint surgery and related hospitalizations among carriers of haemophilia with sex- and birthdate-matched controls from the general population. Methods Carriers of haemophilia born 1941-2008 were identified through the haemophilia treatment centres' (HTCs) databases and the National Patient Register of Sweden. For each carrier, we included up to five individuals using the Swedish population register as comparisons. Data for the period 1987-2008 were obtained. Results Among 539 potential carriers identified, 213 had a known factor activity. Carriers with reduced factor activity and those with unknown factor activity had received their first joint-related diagnosis at a significantly earlier age than their comparisons. The same subgroups showed an overall 2.3- and 2.4-fold higher hazard for joint-related diagnoses compared with the general population. In addition, the hazards of joint-related outpatient hospitalization were 3.2-fold (95% CI: 1.2, 9.1) and 2.5-fold (95% CI: 1.6, 3.7). This was not observed for those with normal factor activity. Conclusion Carriers of haemophilia suffer a significant risk for joint comorbidities. This risk seems to correlate to the factor activity. Our findings underline the importance of regular clinical follow-up of carriers at HTCs.

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