Exploring Female Relatives of Patients with Hemophilia' Awareness, Attitudes, and Understanding Towards Genetic Testing

Overview

Journal J Multidiscip Healthc

Publisher Dove Medical Press

Specialty Health Services

Date 2024 Feb 21

PMID 38380070

Authors

Hua Zhao

Wen-Jing Geng

Rui-Hong Wu

Zhen-Zhen Li

Affiliations

Soon will be listed here.

Abstract

Purpose: A better understanding of the factors that influence engagement is needed to provide a reference for conducting genetic testing in female relatives of patients with hemophilia (PWH). We therefore determined the perceptions and understanding of genetic testing among female relatives of PWH in China.

Methods: We carried out a qualitative study using in-depth, semi-structured interviews with 11 female relatives of PWH in Shanxi Province, China. The resulting data were analyzed using thematic analyses.

Results: This study extracted four topics: uncertainty about carrier genetic status; limited understanding of genetic testing; coexistence of positive and negative coping; and multi-aspect demands.

Conclusion: Healthcare professionals should provide personalized and multidimensional health education and comprehensive decision-making support to female relatives of PWH, to enhance their motivation and willingness to undergo genetic testing. It is also important to actively improve relevant policies, strengthen the genetic testing service system, and promote the popularization of genetic testing in female relatives of PWH.

Citing Articles

Exploring Female Relatives of Patients with Hemophilia' Awareness, Attitudes, and Understanding Towards Genetic Testing [Letter].

Panjaitan N, Maha M, Rinendyaputri R J Multidiscip Healthc. 2024; 17:879-880.

PMID: 38440077 PMC: 10910965. DOI: 10.2147/JMDH.S464878.

References

Negri L, Buzzi A, Aru A, Cannavo A, Castegnaro C, Fasulo M . Perceived well-being and mental health in haemophilia. Psychol Health Med. 2020; 25(9):1062-1072. DOI: 10.1080/13548506.2020.1717556. View

Gustafsson S, Eriksson I . Quality indicators in telephone nursing - An integrative review. Nurs Open. 2020; 8(3):1301-1313. PMC: 8046143. DOI: 10.1002/nop2.747. View

James C, Hadley D, Holtzman N, Winkelstein J . How does the mode of inheritance of a genetic condition influence families? A study of guilt, blame, stigma, and understanding of inheritance and reproductive risks in families with X-linked and autosomal recessive diseases. Genet Med. 2006; 8(4):234-42. DOI: 10.1097/01.gim.0000215177.28010.6e. View

Xing S, Batt K, Kuharic M, Bullano M, Caicedo J, Chakladar S . Evaluation of clinical characteristics, health care resource utilization, and cost outcomes of hemophilia A carriers and noncarriers in the United States: A real-world comparative analysis. J Manag Care Spec Pharm. 2023; 29(6):626-634. PMC: 10387947. DOI: 10.18553/jmcp.2023.29.6.626. View

Kulkarni R . Improving care and treatment options for women and girls with bleeding disorders. Eur J Haematol. 2015; 95 Suppl 81:2-10. DOI: 10.1111/ejh.12580. View

Han P, Umstead K, Bernhardt B, Green R, Joffe S, Koenig B . A taxonomy of medical uncertainties in clinical genome sequencing. Genet Med. 2017; 19(8):918-925. PMC: 5517355. DOI: 10.1038/gim.2016.212. View

. World Medical Association Declaration of Helsinki: ethical principles for medical research involving human subjects. JAMA. 2013; 310(20):2191-4. DOI: 10.1001/jama.2013.281053. View

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. PMC: 9487445. DOI: 10.1002/rth2.12783. View

Ndoumba-Mintya A, Diallo Y, Tayou T, Mbanya D . Optimizing Haemophilia Care in Resource-Limited Countries: Current Challenges and Future Prospects. J Blood Med. 2023; 14:141-146. PMC: 9951595. DOI: 10.2147/JBM.S291536. View

10.

Zhang W, Li K, Poon M, Zhang X, Wu J, Zhao X . Women and girls with haemophilia: A retrospective cohort study in China. Haemophilia. 2023; 29(2):578-590. DOI: 10.1111/hae.14740. View

11.

Walsh C, Jimenez-Yuste V, Auerswald G, Grancha S . The burden of inhibitors in haemophilia patients. Thromb Haemost. 2016; 116 Suppl 1:S10-7. DOI: 10.1160/TH16-01-0049. View

12.

Birt L, Scott S, Cavers D, Campbell C, Walter F . Member Checking: A Tool to Enhance Trustworthiness or Merely a Nod to Validation?. Qual Health Res. 2016; 26(13):1802-1811. DOI: 10.1177/1049732316654870. View

13.

dOiron R, OBrien S, James A . Women and girls with haemophilia: Lessons learned. Haemophilia. 2020; 27 Suppl 3:75-81. DOI: 10.1111/hae.14094. View

14.

Dardik R, Janczar S, Lalezari S, Avishai E, Levy-Mendelovich S, Barg A . Four Decades of Carrier Detection and Prenatal Diagnosis in Hemophilia A: Historical Overview, State of the Art and Future Directions. Int J Mol Sci. 2023; 24(14). PMC: 10380558. DOI: 10.3390/ijms241411846. View

15.

Sheridan N, Thompson B, Lichten L, Coleman K, Sidonio Jr R . The emotional experience of mothers of children with haemophilia: maternal guilt, effective coping strategies and resilience within the haemophilia community. Haemophilia. 2023; 29(2):513-520. DOI: 10.1111/hae.14746. View

16.

Hermans C, Krumb E, Rotellini D, Pierce G . The underevaluated impacts of the therapeutic revolution of hemophilia on women and girls. J Thromb Haemost. 2023; 22(4):915-918. DOI: 10.1016/j.jtha.2023.12.027. View

17.

McClaren B, Delatycki M, Collins V, Metcalfe S, Aitken M . 'It is not in my world': an exploration of attitudes and influences associated with cystic fibrosis carrier screening. Eur J Hum Genet. 2007; 16(4):435-44. DOI: 10.1038/sj.ejhg.5201965. View

18.

Srivastava A, Santagostino E, Dougall A, Kitchen S, Sutherland M, Pipe S . WFH Guidelines for the Management of Hemophilia, 3rd edition. Haemophilia. 2020; 26 Suppl 6:1-158. DOI: 10.1111/hae.14046. View

19.

Torres-Ortuno A . Hemophilia carriers: quality of life and management at different life stages. Blood Coagul Fibrinolysis. 2020; 31(1S):S12-S14. DOI: 10.1097/MBC.0000000000000988. View

20.

Quintana Paris L . Foundations of hemophilia and epidemiology. Blood Coagul Fibrinolysis. 2023; 34(S1):S35-S36. DOI: 10.1097/MBC.0000000000001222. View