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.

Bone health in symptomatic carriers of haemophilia A: a protocol for a multicentre prospective matched-cohort study

“…Recent findings suggest that women who are heterozygous for factor VIII mutations, commonly known as haemophilia carriers, may also have significant bleeding symptoms and lower health-related quality of life (HR-QoL) 11 12. In fact, 30% of haemophilia carriers have low coagulation factor levels and may experience excessive bleeding 1 3.…”

Women with bleeding disorders

“…Fewer studies have specifically evaluated the prevalence of screening and identified the reasons why screening or counselling was lacking. These studies reported that the prevalence of screening ranged from 41% to 49% with the exception of a single study reporting 69% of screening, meaning that only a limited fraction of potential carriers received information from a haemophilia specialist about their status and underwent coagulation factor analysis. However, these statistics must be considered with care, as the inclusion criteria and objectives all differed among these studies.…”

Hemophilia carrier’s awareness, diagnosis, and management in emerging countries: a cross-sectional study in Côte d’Ivoire (Ivory Coast)

“…It has been estimated that for each male with hemophilia, there are five potential female carriers [3]. Carriers are at risk of having sons with hemophilia but may also carry a bleeding risk [4].…”

“…As circumcision generally represents the first surgical intervention in African boys with hemophilia, it is a major cause of bleeding and death [16]. Unawareness of carrier condition and bleeding risk, as well as healthcare givers’ ignorance concerning appropriate management modalities, are also major issues of concern in these countries [4, 17]. In Sub-Saharan Africa, little is known about hemophilia carriers [3, 4, 18, 19], with only very limited access to molecular testing [18, 20], and pedigree and clotting FVIII and IX analyses being often the principal screening and assessment tools.…”