caa a22 4500 60554428X CHVBK 20210128100930.0 cr unu---uuuuu 210128e20151201xx s 000 0 eng 10.1007/s10897-015-9834-8 doi (NATIONALLICENCE)springer-10.1007/s10897-015-9834-8 Uptake of Genetic Counseling, Knowledge of Bleeding risks and Psychosocial Impact in a South African Cohort of Female Relatives of People with Hemophilia [Elektronische Daten] [Anne Gillham, Brenda Greyling, Tina-Marie Wessels, Bongi Mbele, Rosemarie Schwyzer, Amanda Krause, Johnny Mahlangu] In excess of 200 people with hemophilia (PWH) and their families have received genetic counseling (GC) at the Hemophilia Comprehensive Care Centre at Charlotte Maxeke Johannesburg Academic Hospital. However, very few of their at-risk female relatives have attended GC to discuss their reproductive risks and options, or their potential bleeding risks. Limited research has been conducted internationally on factors influencing uptake of GC and testing amongst female relatives of PWH. This prospective study aimed to explore the factors that influence the uptake of GC and testing by female relatives of PWH. An open-ended semi-structured interview schedule was developed. Participants included female relatives of PWH who at least had a family member who had received GC. Seventeen participants were interviewed; 7 who had GC previously and 10 who had not. All participants who had previously received GC found the service helpful and were mothers referred because their sons had hemophilia. Of those who had not had GC, possible deterrents included: being unaware of GC service, focus in clinic on PWH and not potential carriers, misunderstood risks related to hemophilia and carrier status, fear of finding out carrier status, and non-disclosure in families. Most participants were unaware of potential bleeding risks for carriers. The information will be used to provide a better service to female relatives of PWH with a goal being to set up a dedicated hemophilia carrier clinic. National Society of Genetic Counselors, Inc., 2015 Genetic counseling nationallicence Bleeding risks nationallicence Hemophilia carriers nationallicence Psychosocial impact nationallicence South Africa nationallicence Gillham Anne National Bioproducts Institute, Pinegowrie, P.O. Box 818, 2123, Johannesburg, South Africa aut Greyling Brenda Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of Witwatersrand, Johannesburg, South Africa aut Wessels Tina-Marie Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of Witwatersrand, Johannesburg, South Africa aut Mbele Bongi Division of Molecular Medicine and Haematology, Hemophilia Comprehensive Care Centre, Faculty of Health Sciences, University of the Witwatersrand and Charlotte Maxeke Johannesburg Academic Hospital, Johannesburg, South Africa aut Schwyzer Rosemarie Division of Molecular Medicine and Haematology, Hemophilia Comprehensive Care Centre, Faculty of Health Sciences, University of the Witwatersrand and Charlotte Maxeke Johannesburg Academic Hospital, Johannesburg, South Africa aut Krause Amanda Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of Witwatersrand, Johannesburg, South Africa aut Mahlangu Johnny Division of Molecular Medicine and Haematology, Hemophilia Comprehensive Care Centre, Faculty of Health Sciences, University of the Witwatersrand and Charlotte Maxeke Johannesburg Academic Hospital, Johannesburg, South Africa aut Journal of Genetic Counseling Springer US; http://www.springer-ny.com 24/6(2015-12-01), 978-986 1059-7700 24:6<978 2015 24 10897 https://doi.org/10.1007/s10897-015-9834-8 text/html Onlinezugriff via DOI BK010053 XK010053 XK010000 Metadata rights reserved Springer special CC-BY-NC licence nationallicence 1 research-article jats NATIONALLICENCE NATIONALLICENCE NL-springer NATIONALLICENCE 856 40 https://doi.org/10.1007/s10897-015-9834-8 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Gillham Anne National Bioproducts Institute, Pinegowrie, P.O. Box 818, 2123, Johannesburg, South Africa aut NATIONALLICENCE 700 1- Greyling Brenda Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of Witwatersrand, Johannesburg, South Africa aut NATIONALLICENCE 700 1- Wessels Tina-Marie Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of Witwatersrand, Johannesburg, South Africa aut NATIONALLICENCE 700 1- Mbele Bongi Division of Molecular Medicine and Haematology, Hemophilia Comprehensive Care Centre, Faculty of Health Sciences, University of the Witwatersrand and Charlotte Maxeke Johannesburg Academic Hospital, Johannesburg, South Africa aut NATIONALLICENCE 700 1- Schwyzer Rosemarie Division of Molecular Medicine and Haematology, Hemophilia Comprehensive Care Centre, Faculty of Health Sciences, University of the Witwatersrand and Charlotte Maxeke Johannesburg Academic Hospital, Johannesburg, South Africa aut NATIONALLICENCE 700 1- Krause Amanda Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of Witwatersrand, Johannesburg, South Africa aut NATIONALLICENCE 700 1- Mahlangu Johnny Division of Molecular Medicine and Haematology, Hemophilia Comprehensive Care Centre, Faculty of Health Sciences, University of the Witwatersrand and Charlotte Maxeke Johannesburg Academic Hospital, Johannesburg, South Africa aut NATIONALLICENCE 773 0- Journal of Genetic Counseling Springer US; http://www.springer-ny.com 24/6(2015-12-01), 978-986 1059-7700 24:6<978 2015 24 10897