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. K E Y W O R D Saccess, comorbidities, demographics, factor IX, hemophilia B

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. K E Y W O R D Sactivities, hemophilia B, psychosocial, treatment

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. K E Y W O R D Seducation, employment, hemophilia B

Young adults with hemophilia face unique challenges during the transition to adulthood, including issues associated with switching from pediatric to adult hematology care, building mature interpersonal relationships, and establishing an independent career with an assurance of medical insurance coverage. A greater understanding of these challenges is essential for developing effective strategies to address the specific needs of this population. These challenges may be differentiated from those of older adults with hemophilia in large part because of more extensive childhood prophylaxis and safer factor products, resulting in fewer joint problems and lower rates of HIV and HCV infections. This analysis of the changing nature and unmet needs of today's young adults entering into adult hemophilia treatment centers, as well as potential strategies for optimally addressing these needs, was developed following roundtable discussions between patients, caregivers, hematologists, and other health care professionals participating in comprehensive care. Challenges identified among young adults with hemophilia include psychosocial issues related to maturity, personal responsibility, and increased independence, as well as concerns regarding when and with whom to share information about one's hemophilia, limited awareness of educational and financial resources, and a low perceived value of regular hematology care. The initiatives proposed herein highlight important opportunities for health care professionals at pediatric and adult hemophilia treatment centers, as well as national organizations, community groups, and career counselors, to address key unmet needs of this patient population. Am. J. Hematol. 90:S17–22, 2015. © 2015 Wiley Periodicals, Inc.

BackgroundOne of the most common rare inherited bleeding disorders, congenital factor VII (FVII) deficiency typically has a milder bleeding phenotype than other rare bleeding disorders. Categorizing severity in terms of factor activity associated with hemophilia (severe <1%, moderate 1%–5%, mild 6%–40%) has led to the observation that bleeding phenotype does not follow closely with FVII activity. Over the past decade, large-scale global registries have investigated bleeding phenotype more thoroughly. The International Society on Thrombosis and Haemostasis has reclassified FVII deficiency as follows: severe, FVII <10%, risk of spontaneous major bleeding; moderate, FVII 10%–20%, risk of mild spontaneous or triggered bleeding; mild, FVII 20%–50%, mostly asymptomatic disease.Case reportsEleven illustrative cases of congenital FVII deficiency adapted from clinical practice are described to demonstrate the variability in presentation and in relation to FVII activity levels. Severe FVII deficiency usually presents at a young age and carries the risk of intracranial hemorrhage, hemarthrosis, and other major bleeds. Moderate FVII deficiency tends to present later, often in adolescence and particularly in girls as they reach menarche. Milder disease may not be apparent until found incidentally on preoperative testing, during pregnancy/childbirth, or following unexplained bleeding when faced with hemostatic challenges.ConclusionIt is important for health care professionals to be aware of the new definitions of severity and typical presentations of congenital FVII deficiency. Failure to appreciate the risks of major bleeding, including intracerebral hemorrhage in those with FVII activity <10%, may put particularly young children at risk.

Introduction In an era of increased opioid awareness, data on opioid exposure in haemophilia patients are lacking. Aim The objectives of this study were to (a) provide a detailed description of opioid exposure in haemophilia patients based on written prescription data, (b) compare our findings to national haemophilia‐specific and general population datasets and (c) identify predictors of opioid exposure in haemophilia patients. Methods Medical records of 183 adult and 135 paediatric patients from two haemophilia treatment centres (HTC) were reviewed over a 42‐month period. Chronic exposure and acute opioid exposure were recorded, and results were compared to national haemophilia (ATHNdataset) and general population (CDC) data. Results We found that 56% of adult and 21% of paediatric patients were exposed to opioids, rates substantially higher than reported in the ATHNdataset (6%) and national population data from the CDC. In adults, but not children, severity of haemophilia was a significant predictor of opioid exposure. Most acute opioid prescriptions were not written by the HTC. Conclusions This is the first study in the haemophilia population to examine opioid exposure based on prescription data. Opioid exposure was more common than predicted in both adult and paediatric study populations and was most often prescribed for acute pain or procedures by non‐HTC providers. Haemophilia treatment centres need to take the lead in assessing pain in haemophilia patients, guiding treatment promoting non‐opioid options, strengthen efforts to monitor opioid exposure and collect data on pain treatment in the haemophilia population.

Introduction: Glanzmann thrombasthenia (GT) is a rare bleeding disorder (~1:1,000,000) caused by impaired function of platelet glycoprotein IIb/IIIa responsible for aggregation. This novel survey was designed to identify the burden of GT through better understanding of the management of the disorder and its psychosocial impact on patients and caregivers. Methods: Participants were recruited via a rare disease specialty recruiter from Comprehensive Health Education Services. Data were collected from January 31 through March 12, 2019, via a moderator-assisted online survey. On average, the survey was completed within 45 minutes. Information regarding demographics, diagnosis, treatment history, and quality of life was collected. Results: In total, 45 respondents (24 patients and 21 caregivers; 58% female) completed the survey. Many patients were born with significant bruising (76%) or bled extensively during circumcision (47%). As a result of their early symptoms, more than 50% of those surveyed were diagnosed prior to their first birthday. For others, the average time between experiencing initial symptoms and visiting a specialist was just over 1 year and to diagnosis was just over 2 years (average age, 2.6 years, range &lt;1-38 years). Misdiagnosis with von Willebrand disease was common. Approximately 50% of patients experienced 1 bleed every day, and 13% reported over 500 bleeds per year; Most bleeds were skin bruises and mouth bleeds, but patients also reported joint/muscle and gastrointestinal bleeds. Only 24% of respondents reported being treated at a hemophilia treatment center; 71% reported visiting their hematologist regularly. The most common treatment for bleeds was antifibrinolytics (82%), followed by recombinant activated factor VII (rFVIIa; 42%). In addition, 73% reported receiving platelets and blood transfusions in the past year. Approximately 25% reported receiving more than 20 transfusions in their lifetime. Overall, 38% of patients reported having experienced refractoriness to platelets and 32% antibodies to platelets; notably, only these patients reported receiving treatment with rFVIIa. Many feared uncontrolled bleeding due to refractoriness or antibodies to platelets and stated that their health care providers (HCPs) were too quick to treat bleeds with platelets. Many female patients struggled to find a gynecologist with some knowledge of the management of menstruation, pregnancy, and childbirth in patients with GT; 11% of respondents reported menstrual bleeding that required hospitalization and/or emergency treatment. The majority (74%) of female patients reported taking hormonal contraceptives to prevent regular menstruation; some patients not taking hormones required monthly platelet transfusions. Fifty-eight percent of patients reported issues with excessive bleeding at school as children; 38% reported missing school days and 33% were bullied during childhood. In addition, 38% of adult patients and 24% of caregivers had missed work as a result of GT, and 21% of adult patients reported that their employer did not take their condition seriously. Many respondents (65%) were satisfied with the level of support they receive from their significant other, and 76% were satisfied with the level of support they receive from their friends. Conclusions: Many patients with GT are identified early in life owing to a severe phenotype, but diagnosis remains somewhat difficult. Patients with GT experience frequent bleeding episodes, commonly as bruises and nosebleeds, with 31% experiencing more than 100 bleeds per year. Additional support from outside the GT patient community is needed. Patients desire additional education for themselves and their HCPs, especially around menstruation, childbearing, and treatment options. Disclosures Duncan: Novo Nordisk Inc: Consultancy. Kellum:Novo Nordisk Inc: Membership on an entity's Board of Directors or advisory committees; Takeda: Membership on an entity's Board of Directors or advisory committees, Speakers Bureau. Jain:Bioverativ/Sanofi: Consultancy, Membership on an entity's Board of Directors or advisory committees; Novo Nordisk Inc: Consultancy, Membership on an entity's Board of Directors or advisory committees; Bayer: Consultancy, Membership on an entity's Board of Directors or advisory committees; CSL Behring: Consultancy, Membership on an entity's Board of Directors or advisory committees; Octapharma: Consultancy, Membership on an entity's Board of Directors or advisory committees; Takeda/Shire: Consultancy, Membership on an entity's Board of Directors or advisory committees; BPL: Consultancy, Membership on an entity's Board of Directors or advisory committees. Peltier:Novo Nordisk Inc: Membership on an entity's Board of Directors or advisory committees. Cooper:Novo Nordisk Inc.: Employment. Saad:Novo Nordisk Inc: Employment.

INTRODUCTION: Patients with GT, a rare congenital platelet disorder due to ­an abnormality of glycoprotein IIb/IIIa expression, experience frequent and severe mucocutaneous bleeding. Little is known about how and where US GT patients receive care, or about its impact on patients and their families. This first survey is aimed to capture their experience and perspectives. METHODS: A web-based structured quantitative survey (~45 min) was distributed in 1Q 2014 to adult patients (≥18 years old) and parents of affected children (<18 years) in the US using the Glanzmann’s Research Foundation mailing list and Facebook® page. Results are reported as mean (median) unless noted. RESULTS: Respondents included 14 adults with GT (mean age 39.3 years, range 19-55, 86% female) and 9 parents (mean age 42.1 years, range 29-54, 89% female) of children with GT (mean age 9.3 years, range 1-17, 33% female). Respondents had post-high school education (92%), were employed (65%) or students (13%), and had health insurance (87%). Age at diagnosis was 6.2 (2) years and was higher for adults (9.3 [5]) than children (1.7 [0.5]). Frequent presenting symptoms were skin bleeding/bruising (83%), gum/mouth/tooth bleeding (46%), epistaxis (58%), and abnormal menstrual cycles (21%). Time from first bleed to hematology referral was 23 (5) months (38% <3 months); most patients were referred by pediatricians (54%) or internists/family practitioners (21%). Time from first bleed to definitive diagnosis was 33 (13) months (21% <3 months). Parents reported slightly shorter times for both. Confirmatory testing was most often in the hematologists’ lab (58%) or hospital/ER (38%). Treatment team included hemophilia treatment center (HTC)-based hematologist (50%), non-HTC hematologist/oncologist (41%), pediatrician (38%), OB/GYN (33%), internist (25%) and ENT (17%). Most bleeds required none (59%) or local (25%) treatment. Nearly all patients (83%) received a transfusion at some point (67% blood; 75% platelets); 70% received it at a hospital near home. Most patients (78%) reported platelet transfusions controlled bleeds in the past; 56% reported platelet transfusions controlled bleeds currently. Nearly half (44%) were told they were “refractory”; 50% were told they were tested for antibodies and of those tested, 56% were told they had “antibodies” to platelets. Median perceived disease control (0-10 scale, 10=very well controlled) was 6.83 (adults 6.33, parents 7.67). Most adults (93%) and majority of children (67%) found GT impacted school, with issues including absence, bullying, and falling behind. Both adults (87%) and children (78%) reported GT impacted participation in activities/sports in childhood due to restrictions, triggered bleeds, and embarrassment. Half of the adult patients reported still being impacted with activities. GT also impacted relationships with friends and peers for children (56%) and adults (40% during childhood, 20% currently); issues included being teased, marginalized, and called “abused” due to constant bruising. Parents reported having a child with GT impacted their (44%) or their spouses (22%) employment, including frequent absences resulting in reprimands and terminations; 27% of adults reported impacts on employment including fatigue, bleeds, and lost work days. Most respondents were very/quite satisfied with support of spouses (79%), family (76%), and friends (83%), but less so with support of schools (56%) and employers (50%). Hematologists (91%) and websites (91%) were the most common sources of information. Most useful (1-5, 5=most useful) sources of information were other patients (5), other caregivers (5), nurses (4.2), hematologists (4.1), websites (4.1) and national organizations (3.6). Many noted major consumer organizations related to the bleeding disorders population have little or no information on GT. Looking to the future, adults and parents desired increased education of the medical community, more immediate treatment in the ER, focus on pre-activity treatment to prevent bleeding, and improved coordination of care. CONCLUSION: While limited in scope, these data provide directional insight into the burden of living with or caring for one or more children with GT. In particular, the psychosocial impact of frequent mucocutaneous bleeding in childhood deserves further study. These results highlight the need for better resources for families and healthcare providers. Disclosures Cooper: Novo Nordisk: Employment.