Haemophilia testing of young girls in Canada: Describing the current recommendations for factor level and genetic testing and the experiences of Canadian parents.
delayed diagnosis
genetic carrier testing
haemophilia
inherited blood coagulation disorders
women's health
Journal
Haemophilia : the official journal of the World Federation of Hemophilia
ISSN: 1365-2516
Titre abrégé: Haemophilia
Pays: England
ID NLM: 9442916
Informations de publication
Date de publication:
05 Oct 2024
05 Oct 2024
Historique:
revised:
05
09
2024
received:
20
06
2024
accepted:
23
09
2024
medline:
6
10
2024
pubmed:
6
10
2024
entrez:
5
10
2024
Statut:
aheadofprint
Résumé
It is widely acknowledged that haemophilia affects women and girls, yet current testing recommendations for factor level and genetic testing vary and do not universally incorporate updated research. Canadian parents have expressed frustration at inconsistent recommendations and reported instances where delayed testing led to missed diagnosis and preventable bleeding. Study aim was to explore and describe the practice of haemophilia-related testing of young girls in Canada. A mixed methods study was carried out with two populations: (1) Nurses working in haemophilia care completed a survey regarding the current testing recommendations of their Haemophilia Treatment Centre (HTC), (2) Parents of obligate or potential haemophilia carriers completed a structured interview with questions about their family experience of haemophilia and testing decisions for daughters. Twenty-six survey responses were received and showed wide variation in the usual recommendations of Canadian HTCs. Different factor level testing recommendations may be given to obligate and potential carriers despite no difference in bleeding risk. Only a minority of HTCs currently recommend an early baseline factor level (< 10 years) to obligate carriers (27%) or potential carriers (15%). For genetic testing of potential carriers, 70% of HTC would approve a family request for genetic testing of a minor with specific conditions. The majority of parents interviewed felt dissatisfied with their testing experience (58%) and highlighted many issues related to delayed testing recommendations. Updated, nationally affirmed testing recommendations are needed that align with research on bleeding in women and girls affected by haemophilia.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Canadian Hemophilia Society
Organisme : Novo Nordisk Canada Psychosocial Research Program
Informations de copyright
© 2024 The Author(s). Haemophilia published by John Wiley & Sons Ltd.
Références
Sidonio RF. “A new hemophilia carrier nomenclature to define hemophilia in women and girls: communication from the SSC of the ISTH”: reply to comment. J Thromb Haemost. 2022;20(7):1745‐1746.
Street A, Ljung R, Lavery S. Management of carriers and babies with haemophilia. Haemophilia. 2008;14:181‐187.
Plug I, Mauser‐Bunschoten EP, Bröcker‐Vriends AH, et al. Bleeding in carriers of hemophilia. Blood. 2006;108(1):52‐56.
Paroskie A, Gailani D, DeBaun MR, Sidonio Jr RF. A cross‐sectional study of bleeding phenotype in haemophilia A carriers. Br J Haematol. 2015;170(2):223‐228.
Maynadie H, Gillet B, Rafowicz A, eds. Girls and women with haemophilia are insufficiently included in registries (abstract 109). Haemophilia; 2020.
James P, Mahlangu J, Bidlingmaier C, et al. Evaluation of the utility of the ISTH‐BAT in haemophilia carriers: a multinational study. Haemophilia. 2016;22(6):912‐918.
Graham JB, Miller CH, Reisner HM, Elston R, Olive J. The phenotypic range of hemophilia A carriers. Am J Hum Genet. 1976;28(5):482.
Olsson A, Hellgren M, Berntorp E, Holmström M, Baghaei F. Bleeding phenotype in carriers of haemophilia A does not correlate with thrombin generation. Haemophilia. 2015;21(1):e111‐e113.
Gilbert L, Paroskie A, Gailani D, Debaun MR, Sidonio R. Haemophilia A carriers experience reduced health‐related quality of life. Haemophilia. 2015;21(6):761‐765.
Gilbert L, Rollins L, Hilmes M, et al. Haemophilia A carriers demonstrate pathological and radiological evidence of structural joint changes. Haemophilia. 2014;20(6):e426.
Peake I, Lillicrap D, Boulyjenkov V, et al. Haemophilia: strategies for carrier detection and prenatal diagnosis. Bull World Health Organ. 1993;71(3‐4):429.
Bunschoten EM, Van Houwelingen J, Visser ES, Van Dijken P, Kok A, Sixma J. Bleeding symptoms in carriers of hemophilia A and B. Thromb Haemost. 1988;59(03):349‐352.
Miller CH, Bean CJ. Genetic causes of haemophilia in women and girls. Haemophilia. 2021;27(2):e164‐e179.
Arbour L, Society CP, Committee B. Guidelines for genetic testing of healthy children. Paediatr Child Health. 2003;8(1):42‐45.
Chaigneau M, Botros M, Grabell J, Hopman W, James P. Challenges and knowledge gaps facing hemophilia carriers today: perspectives from patients and health care providers. Res Pract Thromb Haemost. 2022;6(6):e12783.
Vears DF, Delany C, Massie J, Gillam L. Why do parents want to know their child's carrier status? A qualitative study. J Genet Couns. 2016;25(6):1257‐1266.
Dunn N, Miller R, Griffioen A, Lee C. Carrier testing in haemophilia A and B: adult carriers’ and their partners’ experiences and their views on the testing of young females. Haemophilia. 2008;14(3):584‐592.
Thomas S, Herbert D, Street A, Barnes C, Boal J, Komesaroff P. Attitudes towards and beliefs about genetic testing in the haemophilia community: a qualitative study. Haemophilia. 2007;13(5):633‐641.
d'Oiron R, O'Brien S, James AH. Women and girls with haemophilia: Lessons learned. Haemophilia; 2020.
van Galen K, Lavin M, Skouw‐Rasmussen N, et al. European principles of care for women and girls with inherited bleeding disorders. Haemophilia. 2021;27(5):837‐847.
World Federation of Hemophilia. Women and Girls with Hemophilia. World Federation of Hemophilia; 2023.
d'Oiron R. Carriers of hemophilia A and hemophilia B. In: Kadir RJ, Lee CA, eds. Inherited Bleeding Disorders in Women. 2nd ed. John Wiley & Sons Ltd; 2019:65‐82.
Hermans C, Kulkarni R. Women with bleeding disorders. Haemophilia. 2018;24:29‐36.
Weyand AC, James PD. Sexism in the management of bleeding disorders. Res Pract Thromb Haemost. 2021;5(1):51‐54.
Puetz J, Hu B. Factor activity levels and bleeding scores in pediatric hemophilia carriers enrolled in the ATHNdataset. Pediatric Blood & Cancer. 2023;70(11):e30644.
Arya S, Wilton P, Page D, Boma‐Fischer L, Floros G, Winikoff R, et al. “Everything was blood when it comes to me”: understanding the lived experiences of women with inherited bleeding disorders. J Thromb Haemost. 2020;18(12):3211‐3221.
Weyand AC, Sidonio Jr RF, Sholzberg M. Health issues in women and girls affected by haemophilia with a focus on nomenclature, heavy menstrual bleeding, and musculoskeletal issues. Haemophilia. 2022;28:18‐25.
Arya S, Wilton P, Page D, et al. “They don't really take my bleeds seriously”: barriers to care for women with inherited bleeding disorders. J Thromb Haemost. 2021;19(6):1506‐1514.
Krumb E, Lambert C, Van Damme A, Hermans CR. Proactive systematic hemophilia carrier screening: a step towards gender equity in hemophilia care. Blood. 2023;142:288.