title: Uptake of Genetic Counseling, Knowledge of Bleeding risks and Psychosocial Impact in a South African Cohort of Female Relatives of People with Hemophilia.
abstract: 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.
authors.affiliation: National Bioproducts Institute, P.O. Box 818, Pinegowrie, 2123, Johannesburg, South Africa. anne.gillham@nbisa.org.za.
authors.forename: Anne
authors.initials: A
authors.lastname: Gillham
authors.affiliation: Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of Witwatersrand, Johannesburg, South Africa.
authors.forename: Brenda
authors.initials: B
authors.lastname: Greyling
authors.affiliation: Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of Witwatersrand, Johannesburg, South Africa.
authors.forename: Tina-Marie
authors.initials: TM
authors.lastname: Wessels
authors.affiliation: 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.
authors.forename: Bongi
authors.initials: B
authors.lastname: Mbele
authors.affiliation: 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.
authors.forename: Rosemarie
authors.initials: R
authors.lastname: Schwyzer
authors.affiliation: Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of Witwatersrand, Johannesburg, South Africa.
authors.forename: Amanda
authors.initials: A
authors.lastname: Krause
authors.affiliation: 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.
authors.forename: Johnny
authors.initials: J
authors.lastname: Mahlangu
mesh_terms: D000328:Adult; D044383:Black People / Q000523:psychology; D005192:Family Health; D005260:Female; D005817:Genetic Counseling / Q000523:psychology*; D005820:Genetic Testing / Q000379:methods*; D006467:Hemophilia A; D006801:Humans; D010342:Patient Acceptance of Health Care / Q000523:psychology*; D011446:Prospective Studies; D011788:Quality of Life; D018570:Risk Assessment; D013019:South Africa
keywords: Bleeding risks; Genetic counseling; Hemophilia carriers; Psychosocial impact; South Africa
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