Effect of etranacogene dezaparvovec on quality of life for severe and moderately severe haemophilia B participants: Results from the phase III HOPE-B trial 2 years after gene therapy.

INTRODUCTION: For people with haemophilia B (PwHB), bleeding may occur despite prophylaxis, negatively affecting health-related quality of life (HRQoL). The pivotal phase 3 HOPE-B trial investigating the adeno-associated virus gene transfer product, etranacogene dezaparvovec (EDZ), demonstrated sustained factor IX (FIX) activity and bleed protection in PwHB with baseline FIX levels ≤2%. AIM: Assess how EDZ affects HRQoL in HOPE-B trial participants. METHODS: HRQoL was evaluated using generic and disease-specific patient reported outcomes (PROs) including the EQ-5D-5L and the Hem-A-QoL questionnaires. Mean domain and total scores were compared 6 months pre- and the first 2 years post-EDZ administration using repeated measures linear mixed models. The percentage of participants with minimal clinically important improvements in HRQoL was also evaluated. RESULTS: Two years post-EDZ, there were nominally significant increases in the least squares (LS) mean score for the EQ-5D-5L Index Value (.04; p = .0129), reflecting better HRQoL. Nominally significant decreases in the LS mean scores, reflecting better HRQoL, were also found for the Hem-A-QoL total score (-6.0; p < .0001) and the Treatment (-13.94; p < .0001), Feelings (-9.01; p < .0001), Future (-6.45; p = .0004) and Work/School (-5.21; p = .0098) domains. The percentage of participants with ≥15-point improvement ranged from 45.83% (95% CI: 31.37%, 60.83%) for Treatment to 13.89% (95% CI: 4.67%, 29.50%) for Family Planning. Results were similar for Year 1. CONCLUSION: In conclusion, gene therapy with EDZ improved HRQoL in the first and second years in several Hem-A-QoL domains, including Treatment, Feelings, Work/School and Future domains, whereas improvement in other aspects of HRQoL were not demonstrated.

Cross-cultural adaptation and validation of the Canadian Haemophilia Outcomes-Kids' Life Assessment Tool (CHO-KLAT) in Côte d'Ivoire (the Ivory Coast).

INTRODUCTION: Health-related quality of life evaluation is recognized as an important outcome in the assessment of boys with haemophilia. In fact, reliable health-related quality of life data are even more critical in developing countries to advocate for government agencies to develop national haemophilia care programmes. However, validated tools are not yet available in sub-Saharan African countries. AIMS: The purpose of this study was to complete the cultural adaptation and validation of the Canadian Haemophilia Outcomes-Kids' Life Assessment Tool version2.0 (CHO-KLAT2.0) in Côte d'Ivoire. METHODS: The process included four steps: a linguistic adaptation, cognitive debriefing interviews with children and their parents, a validity assessment with the Pediatric Quality of Life Inventory (PedsQL) as a comparator, and a test-retest reliability assessment. RESULTS: The initial Ivoirian version of the CHO-KLAT2.0 was developed through a linguistic adaptation performed in close collaboration with members of the local medical team and haemophilia community. Cognitive debriefings were completed with five boys and their parents, with the final Ivoirian version of the CHO-KLAT2.0 developed in September 2017. The validation process included 37 boys with haemophilia (mean age: 11.4 years; 34 with severe and three with moderate forms of haemophilia, all treated on demand) and their parents. Among the child-reported population (n = 20), we observed a mean CHO-KLAT2.0 score of 51.3 ± 9.2; there was a moderate correlation between the CHO-KLAT2.0 and PedsQL scores (r = 0.581; p = 0.007) and an inverse correlation of the CHO-KLAT2.0 and PedsQL scores with the global rating of the degree to which the boys were bothered by their haemophilia. The mean parent proxy CHO-KLAT2.0 score (n = 17) was 53.5 ± 9.8. Among the parents, we found no significant correlation between the Ivoirian CHO-KLAT2.0 and PedsQL scores or between the parent-reported scores and the parent global ratings of bother. The test-retest intraclass correlation coefficient was 0.879 (95% CI: 0.673; 0.954) for the child-reported questionnaires and 0.880 (95% CI: 0.694; 0.955) for the proxy-reported questionnaires. CONCLUSIONS: A cross-culturally adapted and validated version of the CHO-KLAT2.0 for Côte d'Ivoire is now available that enables baseline values to be obtained and intervention outcomes (namely, prophylaxis) to be measured in Ivoirian boys with haemophilia.

Disease-related distress among adults with haemophilia: A qualitative study.

INTRODUCTION: Distress related to disease burden has been defined and described among people with chronic diseases including diabetes and cancer. In these populations, disease-specific distress is associated with health outcomes. Haemophilia-related distress is less understood. AIM: To identify qualitative features of haemophilia-related distress among affected adults to ultimately inform the creation of a measurement tool. METHODS: Adults with haemophilia A or B associated with a large haemophilia treatment centre in the south-eastern U.S. were recruited to participate in this qualitative study. Fifteen participants completed semi-structured telephone interviews. Interviews lasted 1-2 hours and explored experiences of distress related to various aspects of haemophilia. Interviews were audio taped, transcribed and coded using NVIVO, software for organizing, managing and analysing qualitative data. Coding was deductive and inductive, and the analysis was thematic. RESULTS: Haemophilia-related distress was broadly related to feelings of isolation and vulnerability which incorporated health system factors, physical functioning, caretaker roles and psychological considerations. Specific features associated with haemophilia-related distress included lack of trust in the knowledge of haemophilia and care provided by staff in community healthcare settings, concerns about the future such as health insurance access and ageing/disability, long-standing feelings of being different from others and feeling like an outsider, treatment burdens and fear of acute bleeds. Protective factors included supportive relationships with family, friends and haemophilia care teams through which participants received practical and emotional support. CONCLUSION: Features of haemophilia-related distress were identified. Results will facilitate distress measurement and intervention efforts to reduce distress in adults with haemophilia.

Newborn screening for haemophilia: The views of families and adults living with haemophilia in the UK.

INTRODUCTION: As genomic sequencing become more efficient and cost-effective, the number of conditions identified through newborn screening globally is set to dramatically increase. Haemophilia is a candidate condition; however, very little is known about the attitudes of the haemophilia community towards screening. AIM: This study aimed to outline the perspectives of adults with haemophilia and their families towards newborn screening. METHODS: A paper and online survey on screening were distributed to every family known to the Haemophilia Society UK. Data collection occurred between January and June 2018. In total, 327 participants completed the survey: 76% were a relative of a person with haemophilia and 24% had haemophilia themselves; 83% were living with haemophilia A and 17% with haemophilia B. RESULTS: The vast majority supported newborn screening (77%) and preferred it to other forms of screening (preconception or prenatal). Participants supported newborn screening primarily because they viewed it as a means to facilitate early support and treatment, facilitate informed decisions about future pregnancies and prevent the "diagnostic odyssey." The 23% who did not support the screen did not associate these particular benefits with newborn screening. CONCLUSION: Haemophilia emerged from this analysis as a condition that the vast majority of participants considered a "liveable" disability and one best suited to newborn screening programmes that could improve support to affected families rather than reduce the birth rate of affected children.

Describing the quality of life of boys with haemophilia in China: Results of a multicentre study using the CHO-KLAT.

INTRODUCTION: The treatment of haemophilia varies across countries and across regions within some countries. Similar variation has been observed in health-related quality of life (HR-QoL). Relatively little is known about the HR-QoL of boys with haemophilia in China. AIM: The aim of this study was to describe the HR-QoL of boys with haemophilia in China using the Canadian Haemophilia Outcomes-Kids Life Assessment Tool (CHO-KLAT). METHODS: Boys (4-18 years of age) with haemophilia and their parents were enroled in a cross-sectional study. All parents/guardians of study subjects were requested to complete a CHO-KLAT questionnaire during a clinic visit, and report on several other clinical and socioeconomic factors in the past year. Boys who were > 7 years also completed the CHO-KLAT. RESULTS: A total of 269 parents of boys with haemophilia, from 13 hospitals in 12 provinces, were enroled during 2014. The boys ranged from 4.0 to 17.9 years of age; 91% had haemophilia A, most had moderate (52%) or severe (36%) disease, and most were receiving sub-optimal on-demand therapy or low-dose prophylactic therapy. Child self-report CHO-KLAT scores were available for 171 boys ≥7 years of age and ranged from 24.2 to 85.3 with a mean of 57.6 (n = 171). Parent proxy-reported CHO-KLAT scores ranged from 25.0 to 88.7 with a mean of 55.1 (n = 269). CONCLUSION: HR-QoL scores in boys with haemophilia in China were substantially lower than reported from Canadian and European boys with haemophilia. Longer term prospective studies are required to examine the factors impacting the HR-QoL for boys with haemophilia in China.

Impact of hemophilia B on quality of life in affected men, women, and caregivers-Assessment of patient-reported outcomes in the B-HERO-S study.

INTRODUCTION: Health-related quality of life (HRQoL) is impaired in patients with hemophilia; however, the impact in mild/moderate hemophilia B and affected women is not well characterized. OBJECTIVE: To evaluate factors that affect HRQoL in adults with hemophilia B and caregivers of affected children. METHODS: US adult patients and caregivers of affected children completed distinct ~1-hour online surveys including patient-reported outcome instruments. RESULTS: In total, 299 adult patients and 150 caregivers participated. Adults with moderate hemophilia reported poorer health status (median EQ-5D-5L index score, 0.63) than those with mild (0.73) or severe (0.74) hemophilia. Women reported greater pain severity than men on the Brief Pain Inventory v2 Short Form (median, 7.00 vs 5.00). Based on the Patient Health Questionnaire, mild or worse depression was observed in >50% of adult respondents, and depression was reported more often in those with moderate and severe hemophilia vs those with mild hemophilia. Most caregivers reported at least mild depression. CONCLUSION: Pain, functional impairment, and depression/anxiety are present at higher-than-expected levels in individuals with hemophilia B. The large proportion of individuals with mild/moderate hemophilia and women with reduced health status suggests significant unmet needs in this population.

Factors associated with pain severity, pain interference, and perception of functional abilities independent of joint status in US adults with hemophilia: Multivariable analysis of the Pain, Functional Impairment, and Quality of Life (P-FiQ) study.

INTRODUCTION: Levels of pain and dysfunction appear to differ among people with hemophilia despite similar levels of joint disease. OBJECTIVE: To determine patient characteristics that influence pain and function independent of joint status. METHODS: US adults with hemophilia completed a survey that included information on clinical characteristics, demographics, and patient-reported outcome instruments assessing pain (Brief Pain Inventory v2 Short Form [BPI]), functional impairment (Hemophilia Activities List [HAL]), and health status (EQ-5D-5L). Additionally, physiotherapists optionally completed a clinical joint evaluation (Hemophilia Joint Health Score [HJHS]). Associations were examined using simple and multiple regression models. RESULTS: Of 381 adults enrolled, 240 had complete HJHS scores (median age, 32 years). After controlling for HJHS and opiate use, anxiety/anxiolytic use was significantly associated with worse pain severity and interference scores. After controlling for HJHS, the most significant predictors of functional impairment were older age, unemployment, more severe hemophilia, and greater pain. EQ-5D-5L pain/discomfort was associated with worse outcomes on most HAL scores. CONCLUSION: Unemployment, anxiety, and depression were each associated with both greater pain and functional disability after controlling for joint status. Continued attention to pain and psychosocial issues will be important in improving clinical care and research efforts in the hemophilia population.

Patient-reported outcomes and joint status across subgroups of US adults with hemophilia with varying characteristics: Results from the Pain, Functional Impairment, and Quality of Life (P-FiQ) study.

INTRODUCTION: Pain and functional impairment associated with joint disease are major problems for people with hemophilia, and impact on health-related quality of life (HRQoL) may vary across groups defined by demographic and treatment-related characteristics. OBJECTIVE: To evaluate differences in overall HRQoL, pain, function, and joint status between P-FiQ study subgroups. METHODS: Adult males with hemophilia and a history of joint pain/bleeding completed a pain history and the patient-reported outcome instruments EQ-5D-5L, Brief Pain Inventory v2 Short Form (BPI), International Physical Activity Questionnaire (IPAQ), and Hemophilia Activities List (HAL); optionally, joint status was assessed (Hemophilia Joint Health Score v2.1 [HJHS]). Scores were analyzed between subgroups across sets of participant characteristics. RESULTS: A total of 381 adult males with hemophilia were enrolled, with median age of 34 years. Worse scores on EQ-5D-5L index, BPI pain severity/interference, HAL overall score, and HJHS were generally associated with being college educated, unemployment, self-reporting both acute and chronic pain, and self-reporting anxiety/depression. CONCLUSIONS: Measures of joint status and HRQoL were consistently lower in participants who had higher educational levels, were unemployed, self-reported having both acute and chronic pain, and self-reported having anxiety/depression. A greater understanding of the association of these factors with disease outcomes may improve individualized patient management.

The impact of severe haemophilia and the presence of target joints on health-related quality-of-life.

BACKGROUND: Joint damage remains a major complication associated with haemophilia and is widely accepted as one of the most debilitating symptoms for persons with severe haemophilia. The aim of this study is to describe how complications of haemophilia such as target joints influence health-related quality of life (HRQOL). METHODS: Data on hemophilia patients without inhibitors were drawn from the 'Cost of Haemophilia across Europe - a Socioeconomic Survey' (CHESS) study, a cost-of-illness assessment in severe haemophilia A and B across five European countries (France, Germany, Italy, Spain, and the UK). Physicians provided clinical and sociodemographic information for 1285 adult patients, 551 of whom completed corresponding questionnaires, including EQ-5D. A generalised linear model was developed to investigate the relationship between EQ-5D index score and target joint status (defined in the CHESS study as areas of chronic synovitis), adjusted for patient covariates including socio-demographic characteristics and comorbidities. RESULTS: Five hundred and fifteen patients (42% of the sample) provided an EQ-5D response; a total of 692 target joints were recorded across the sample. Mean EQ-5D index score for patients with no target joints was 0.875 (standard deviation [SD] 0.179); for patients with one or more target joints, mean index score was 0.731 (SD 0.285). Compared to having no target joints, having one or more target joints was associated with lower index scores (average marginal effect (AME) -0.120; SD 0.0262; p < 0.000). CONCLUSIONS: This study found that the presence of chronic synovitis has a significant negative impact on HRQOL for adults with severe haemophilia. Prevention, early diagnosis and treatment of target joints should be an important consideration for clinicians and patients when managing haemophilia.

Evaluating the psychosocial impact of hemophilia B: The Bridging Hemophilia B Experiences, Results and Opportunities into Solutions (B-HERO-S) study.

The needs of individuals living with hemophilia B, especially those with mild or moderate hemophilia and affected females, are not well understood. The Bridging Hemophilia B Experiences, Results and Opportunities into Solutions (B-HERO-S) initiative was developed in an effort to obtain greater insights into the unique issues and challenges faced by those with hemophilia B. This study explored the impact of hemophilia B on education, employment, engagement in physical activities and other psychosocial aspects of the lives of affected individuals and their families. The B-HERO-S findings reveal a number of unmet needs in the hemophilia B population, and these results may be leveraged to inform patient outreach and education initiatives.

Impact of mild to severe hemophilia on engagement in recreational activities by US men, women, and children with hemophilia B: The Bridging Hemophilia B Experiences, Results and Opportunities into Solutions (B-HERO-S) study.

The psychosocial impact of hemophilia on activities was recently investigated in the Hemophilia Experiences, Results and Opportunities (HERO) study (675 people with hemophilia and 561 caregivers of children with hemophilia in 10 countries). The impact of hemophilia B may not be accurately reflected in the HERO results, as ~75% of respondents described issues affecting males with hemophilia A. To address the needs of this population, the Bridging Hemophilia B Experiences, Results and Opportunities Into Solutions (B-HERO-S) was developed as a pilot study in the United States in collaboration with the hemophilia community. The analysis reported here assessed engagement in recreational activities and changes to treatment regimens around activities as reported by 299 adults with hemophilia B and 150 caregivers of children with hemophilia B. Nearly all adults with hemophilia B (98%) experienced a negative impact on their participation in recreational activities due to hemophilia-related issues, and most caregivers (90%) reported that hemophilia B had a negative impact on their child's engagement in recreational activities. One of the main reasons identified for discontinuing past activities was the risk of bruising or bleeding (adults/children with hemophilia B, 49%/41%). In particular, adults with hemophilia B reported a history of activity-related bleeding, and most adults decreased their participation in high-risk activities as they aged. Substantial percentages of adults and children with hemophilia B (including mild/moderate severity) altered their treatment regimens to accommodate planned activities. These findings may help inform guidelines for individualizing treatment regimens around participation in recreational activities based on hemophilia severity, baseline factor level, and activity risk and intensity.

Impact of mild to severe hemophilia on education and work by US men, women, and caregivers of children with hemophilia B: The Bridging Hemophilia B Experiences, Results and Opportunities into Solutions (B-HERO-S) study.

The psychosocial impact of hemophilia on work was recently investigated in the Hemophilia Experiences, Results and Opportunities (HERO) study. The findings revealed that hemophilia had an impact for adults with moderate/severe hemophilia and caregivers of children with hemophilia. HERO did not specifically evaluate impact on education in adults/children with mild/moderate hemophilia or the impact on employment of spouses/partners of caregivers of affected children. The Bridging Hemophilia B Experiences, Results and Opportunities into Solutions (B-HERO-S) study evaluated the impact of hemophilia on the lives of adult men/women with mild-severe hemophilia B and caregivers of boys/girls with hemophilia B and their spouses/partners. Many adults with hemophilia B (94%) reported that hemophilia had a negative effect on their ability to complete a formal education, often attributed to the inability to attend or concentrate in school as a result of hemophilia-related bleeding or pain. Most adults with hemophilia B (95%) and caregivers/partners (89%/84%) indicated that hemophilia had a negative impact on employment. Most adults with hemophilia were employed (81%), with construction/manufacturing (35%) as the most frequently reported industry; many worked in jobs requiring manual labor (39%). Of those unemployed, 62% never worked, and those who stopped working reported that they left the workforce due to financial issues (59%), including insurance coverage/co-pays, or hemophilia-related issues (55%). Nearly one-third of caregivers voluntarily left the workforce to care for children with hemophilia. These results suggest a need to focus more effort on career counseling for adults with hemophilia B and caregivers of affected children, especially around mild/moderate hemophilia, as this population may not be as well informed regarding potential impact in school and the workplace.

Management of US men, women, and children with hemophilia and methods and demographics of the Bridging Hemophilia B Experiences, Results and Opportunities into Solutions (B-HERO-S) study.

The Bridging Hemophilia B Experiences, Results and Opportunities Into Solutions (B-HERO-S) initiative was launched in an effort to address specific gaps in the understanding of the psychosocial impact of mild-moderate-severe hemophilia B. The original Hemophilia Experiences, Results and Opportunities (HERO) qualitative study evaluated the needs of people with hemophilia A or B in multiple countries; however, a majority of participants had the more common moderate-severe hemophilia A. The B-HERO-S study was designed in collaboration with the hemophilia community to evaluate the needs of adults with hemophilia B and caregivers of children with hemophilia B, including affected women and caregivers of girls with hemophilia. The report presented here describes participant demographics and comorbidities, as well as treatment regimens and access to treatment. Bleeding symptoms were reported by 27% of mothers of children with hemophilia B who participated. Women were more likely than men to self-report arthritis and depression/anxiety as comorbidities associated with hemophilia B. More adults and children with hemophilia B were on routine treatment than on on-demand treatment, and a high percentage of adults with moderate hemophilia B received routine treatment (86%). Many adults with hemophilia B (78%) and caregivers (69%) expressed concern about access to factor in the next 5 years, and of adults with hemophilia B, women more commonly experienced issues with access to factor in the past than did men (72% vs 44%). The findings of the B-HERO-S study reveal potential unmet needs of some patients with mild-moderate hemophilia B, and the results may be leveraged to inform patient outreach by hemophilia treatment centers and education initiatives.

Favourable impact of regular swimming in young people with haemophilia: experience derived from 'Desafio del Caribe' project.

Swimming is beneficial for persons with haemophilia (PWH) providing good maintenance of the cardiovascular and musculoskeletal system and improving many psychological characteristics. In the Desafío del Caribe Project, young PWH from Venezuela and Mexico took part in an open water competition in the Gulf of Mexico under a multidisciplinary team supervision. Eight severe haemophilia A, two moderate haemophilia A, one severe haemophilia B and two moderate haemophilia B subjects were included. Haematological, musculoskeletal and psychological evaluations were carried out before and during training for the competition. Training program included physical exercise routines and swimming practices that alternated between pools and open water. Swimmers had coverage with factor concentrates before pool and open water trainings. In physiatric evaluations, the Hemophilia Joint Health Score (HJHS) was used. The objective of the psychology area was to analyse self-esteem, precompetition anxiety, coping mechanisms and relaxation levels. The need of factor prophylaxis before intense trainings was confirmed. In the musculoskeletal system a decrease of elbow pain as well as an increase of muscle strength in the ankles were observed. In the psychological area significant differences between the first and second test in self-esteem levels, cognitive anxiety and group cohesion were found. PWH must be provided with orientation and encouragement to practice swimming regularly. High competition exercise must be supervised by a multidisciplinary team which must evaluate the pros and cons of the activity to make relevant recommendations.

Survey of coagulation factor concentrates tender and procurement procedures in 38 European Countries.

INTRODUCTION: Procurement of coagulation factor concentrates (CFCs) for the treatment of haemophilia is a vital process that determines the quantity and quality of factor replacement therapy. AIM: The aim of this study was to examine the different tender and procurement systems used in Europe for the procurement of CFCs and the outcomes produced by the various systems. METHODS: The survey questionnaire consisted of 30 items and explored various aspects of the procurement process including the prices of CFCs. In 2014, the survey was sent out by the European Haemophilia Consortium (EHC) to 45 national haemophilia patient organizations affiliated to the EHC in all European countries as well as to a designated clinician familiar with the procurement process. RESULTS: The survey was completed by 38 European countries. Nineteen countries use a tender process, 17 an alternative procurement process and 2 use a combination of methods. A wide variety of agencies and individuals are involved in the process. Factors associated with optimum outcome and lower prices include a tender process with a specific legal framework and a tender board including haemophilia clinicians and patient organization representatives. Safety was reported as the most important selection criterion but given the safety profile of almost all currently licensed products, price was the main criterion used in many countries. CONCLUSION: The involvement of both clinicians and patient organizations greatly improves the outcome of a tender or procurement process, as does the presence of a legal framework that governs the process.

Comparing the Quality of Life of Patients With Hemophilia and Juvenile Idiopathic Arthritis in Which Chronic Arthropathy Is a Common Complication.

INTRODUCTION: Hemophilia is a genetic disorder in which recurrent joint bleeding causes arthropathy. Inflammation and degeneration play roles in the pathogenesis of hemophilic arthropathy. Patients with juvenile idiopathic arthritis (JIA) experience a similar inflammatory degenerative joint disease. A comparison of different patients with common pathogenetic features may identify unique features helpful in terms of the follow-up. AIM: We compared the quality of life (QoL) of patients with hemophilia and JIA, and healthy controls, using a generic QoL scale, Kidscreen and Disabkids Questionnaires (KINDL). Differences among groups were evaluated in terms of sociodemographic characteristics and clinical parameters affecting the QoL. METHODS: We included 33 hemophilia patients, 19 JIA patients, and 32 healthy individuals aged 4 to 18 years. Sociodemographic characteristics (the age, the maternal educational status, the place of residence, the size of the household, the household income, divorced parents) were noted, and the KINDL was administered to all participants. Clinical parameters associated with arthropathy (the functional independence score [FISH], the hemophilia joint health score [HJHS], the arthropathic joint count, and the painful joint count) were documented. Differences in frequencies and medians among the groups were evaluated using the χ, the Mann-Whitney U, and the Kruskal-Wallis tests. RESULTS: All KINDL dimensions were above 50, reflecting "good conditions" in the 2 patient groups. No difference between patients with hemophilia and JIA was evident in terms of the clinical parameters of FISH, the HJHS, or the arthropathic or painful joint counts (P>0.05). Sociodemographically, only the frequency of literate mothers was lower in patients with hemophilia than in those with JIA and healthy controls (P=0.03). Patients with JIA scored more higher on the KINDL dimension of chronic illness than those with hemophilia (P=0.02). The FISH score correlated with the total QoL score in both patients with hemophilia and JIA (r=0.39, P=0.03 and r=0.48, P=0.04, respectively). CONCLUSIONS: Although no difference was evident between the patient groups in terms of clinical parameters associated with arthropathy, JIA patients coped better with illness than those with hemophilia. JIA patients had a higher proportion of literate mothers than hemophilia patients; this may affect a patient's ability to cope with issues relating to chronic illness. Implementation of an educational program for mothers of hemophilia patients, during follow-up, may improve the patient's QoL. Also, hemophilia patients should be assisted to improve their QoL in the dimensions of self-esteem and schooling. Lastly, the evaluation of functional disability by FISH in hemophilia patients is important because the FISH score correlated with the total QoL score, as revealed by KINDL. In JIA patients also, functional disabilities caused by arthropathy affected the QoL.

Mothers' experiences of genetic counselling in Johannesburg, South Africa.

Genetic counselling is offered in diverse settings, and patient reactions vary due to differences in personal, family and community beliefs, local healthcare settings, as well as cultural background. Together, these factors influence how individuals experience genetic counselling. This study aimed to describe and document the experiences of thirteen mothers, with children with Down syndrome, oculocutaneous albinism or haemophilia B, who had received genetic counselling at state hospitals in Johannesburg, South Africa. A qualitative research design drawing on principles of Interpretative Phenomenological Analysis was used. Four voice-recorded focus groups were conducted and the resulting data were analysed using thematic content analysis. Five themes were identified in the data: thrown into the unknown; a worthwhile experience; a break in communication; telling the family and the community; and spreading the word. It was seen that genetic counselling cannot be viewed as a singular experience, but rather as one which is influenced by mothers' lived experiences and their interactions with other healthcare services, family and community members. The results from this study showed that genetic services and conditions were poorly understood, that the experience of genetic counselling varied amongst mothers, and on-going patient support is needed particularly when addressing family and community members. Further research is needed to assess what information is valuable to individuals during genetic counselling and how to deliver this information in a contextually appropriate manner. Greater awareness of genetic conditions is also required amongst communities and healthcare professionals. Valuable insight was gained from this study which can be used to improve local training programmes and genetic counselling services in Johannesburg, and in South Africa.

Haemophilia Experiences, Results and Opportunities (HERO) Study: survey methodology and population demographics.

Psychosocial factors have a significant impact on the quality of life of persons with haemophilia (PWH). The Haemophilia Experiences, Results and Opportunities (HERO) initiative was developed to provide a greater understanding of the psychological components which influence the lives of PWH. This article describes the HERO methodology and the characteristics of respondents. Two online surveys (one for adult PWH ≥18 years and one for parents of children <18 years with haemophilia) were developed by an international advisory board and conducted in 10 countries. The surveys included demographic and treatment characteristics, relationships, sexual intimacy, quality of life, barriers to treatment and sources of information. A total of 675 PWH [age, median (range) 36 (18-86 years)] and 561 parents [39 (23-68 years)] completed the survey. PWH/parents reported haemophilia A (74%/76%), B (13%/16%) or with inhibitors (13%/8%). Spontaneous joint bleeding was reported in 76%/52% of PWH/children with haemophilia A, 67%/47% with haemophilia B and 93%/76% with inhibitors. Median number of bleeds (interquartile range) was 7 (2-20) for PWH and 4 (2-10) for children in the past year. Most PWH and children were treated with factor concentrate. PWH reported arthritis (49%) and HIV/HCV infections (18%/43%) related to haemophilia. Most PWH and parent respondents had received formal education (85%/89%) and were employed full- or part-time (60%/72%). HERO is one of the largest multinational studies focused on psychosocial issues in haemophilia, including historical and treatment information that will allow for multivariate analyses of determinants of health in haemophilia.

Physical and mental quality of life in adult patients with haemophilia in Belgium: the impact of financial issues.

In Belgium, where haemophilia affects approximately 1:7000 people (2011), data on patients' quality of life (QoL) is scarce. This project aims to assess physical and mental QoL (P-QoL and M-QoL) simultaneously, and to analyse the influence of different variables on these two aspects of QoL. After Ethics Committee approval, we contacted 84 adult haemophilia A (HA) and haemophilia B (HB) patients, without current inhibitors, on replacement therapy (on-demand or secondary prophylaxis), regularly followed up at our comprehensive treatment centre. Seventy-one (n = 59 HA, n = 12 HB) replied to our questionnaire, which included the SF36v2 QoL assessment forms. We analysed two groups of variables: one including variables previously associated with decreased QoL, and another including variables with unclear impact on QoL (e.g., patients' understanding of haemophilia-related issues, economical concerns). In our population (mean ± SD age: 45.2 ± 14.7 years old), P-QoL appeared more reduced than M-QoL. P-QoL was strongly influenced by the number of arthropathies while M-QoL was primarily affected by patients' concern of personal costs due to haemophilia. Among this latter group, having knowledge of insurance coverage had a positive impact on M-QoL. Scores did not depend on haemophilia type. QoL was impaired in our haemophilia patients. A simultaneous assessment of P-QoL and M-QoL confirmed the benefit of primary prophylaxis in P-QoL, while originally pointing out the major burden of patients' concerns and poor understanding of haemophilia-related economical issues on their M-QoL. This might become a particularly challenging issue in times of financial crisis.

Process and experience of cross-cultural adaptation of a quality of life measure (CHO-KLAT) for boys with haemophilia in Brazil.

Health-related quality of life (HRQoL) is an important outcome from the perspective of boys with haemophilia and their parents. Few studies have captured the HRQoL of boys with haemophilia in developing countries. This article reports on the cross-cultural adaptation of the Canadian Haemophilia Outcomes - Kids Life Assessment Tool (CHO-KLAT) for use in São Paulo, Brazil. The CHO-KLAT(2.0) was translated into Portuguese, and then translated back into English. The original English and back-translation versions were compared by a group of three clinicians, whose first language was Portuguese. The resulting Portuguese version was assessed through a series of cognitive debriefing interviews with children and their parents. This process identified concepts that were not clear and revised items to ensure appropriate understanding through an iterative process. The initial back-translation was not discrepant from the original English version. We made changes to 66% of the CHO-KLAT(2.0) items based on clinical expert review and 26% of the items based on cognitive debriefings. In addition, two new items were added to the final Portuguese version to reflect the local cultural context. The final result had good face validity. This process was found to be extremely valuable in ensuring the items were accurately interpreted by the boys/parents in São Paulo Brazil. The results suggest that professional translators, clinical experts and cognitive debriefing are all required to achieve a culturally appropriate instrument. The Portuguese CHO-KLAT(2.0) is well understood by Sao Paulo boys/parents. The next step will be to test its validity and reliability locally.