Research Studies

Objective:

There are limited data on the impact of haemophilia on health status and health-related quality of life (HRQL) in people affected by non-severe haemophilia. Aim is to evaluate the health status of people living with mild or moderate haemophilia.

Methods:

A cross-sectional, multinational study was conducted as part of the Patient Reported Outcomes, Burdens and Experiences (PROBE) project. Respondents without bleeding disorder (NoBD) and those with mild or moderate haemophilia were included. Respondents were asked to complete the PROBE questionnaire, which contains haemophilia-related questions, general health questions and HRQL. Results were compared between unaffected individuals and people with mild or moderate haemophilia.

Summary:

A total of 862 respondents, of whom 144 with moderate haemophilia, 143 with mild haemophilia and 575 with NoBD were included. Median age (first-third quartile) was 33 (23-46),42 (25-55) and 43 (35-54), respectively. In relation to bleeding in the previous 12 months, respondents with mild reported less bleeding frequency than those with moderate haemophilia, with similar patterns of bleeding frequency seen in both male and female cohorts. Reporting of acute pain is less in those with NoBD compared to the mild to moderate cohorts for both genders (male - 33%, 67%, 77%; female - 38%, 52%, 67%, respectively). Thirteen percent of those with NoBD reported an impact on activities of daily living compared with mild and moderate haemophilia who reported of 35% and 61%, respectively. The impact on quality of life due to mild haemophilia compared to those with NoBD was a reduction of 5.2%, 5.0% and 9.3% in VAS, EQ-5D-5L and PROBE Score respectively (p≤0.001).

Conclusions:

People affected by mild or moderate hemophilia encountered a significant amount of haemophilia related sequalae. Future research is needed to identify the optimal management of moderate and mild hemophilia patients, with particular focus on early identification of patients with a severe clinical phenotype.

Dr. Michael H. White is a pediatric hematology and oncology fellow at Emory University/CHOA. He earned his undergraduate degree in biology from Harding University and completed his medical degree at the University of Texas Southwestern Medical School. He went on to complete his general pediatrics residency training at Vanderbilt University in Nashville, TN. He is currently pursuing a Master of Science degree in Clinical Research at Emory University and has received a TL1 research training grant (also known as a "Linked Training Award"), through the National Institutes of Health for his focus on multidisciplinary clinical and translational science. Dr. White is also the Chair-Elect of the Hemostasis and Thrombosis Research Society (HTRS) Fellows Network and serves as a board member for the International Health Care Foundation. As an NHF-Shire clinical fellow, Dr. White will receive specialized clinical training in the Comprehensive Bleeding Disorders Clinic and Women and Girls' Bleeding Clinic at CHOA under the mentorship of Drs. Robert Sidonio and Shannon Meeks. In addition to his clinical focus treating patients with disorders of hemostasis and thrombosis, Dr. White will pursue his clinical research characterizing the management and outcomes of heavy menstrual bleeding in adolescents with bleeding disorders and in those who are taking anticoagulant or antiplatelet medications.

While an NHF-Shire Clinical Fellow, Dr. Hanny Al-Samkari will acquire a clinical and research expertise in hemophilia and rare bleeding disorders under the mentorship of Dr. Stacy Croteau at Boston Children's Hospital and Drs. Eric Grabowski and Larissa Bornikova at Massachusetts General Hospital (MGH). Dr. Al-Samkari received his medical degree from Washington University in St. Louis, where he was elected to AOA (Alpha Omega Alpha is a national medical honor society). He completed his residency in internal medicine at the University of Pennsylvania, where he served as Chief Medical Resident. He completed his fellowship in hematology and medical oncology at the Dana-Farber Cancer Institute and Massachusetts General Hospital (MGH) combined program. During this fellowship, he strengthened his passion for classical hematology, and his research was focused on novel indications for thrombopoietin receptor agonists. Dr. Al-Samkari will lead the Hereditary Hemorrhagic Telangiectasia (HHT) clinic at MGH under the mentorship of Dr. David Kuter. He is also a dedicated medical educator, having worked as a member of the American Society of Hematology's Benign Hematology Curriculum Initiative, and he has continued to be active in teaching medical students, residents and physician assistants.

People with bleeding disorders are often connected to and with various community members such as local and national foundations/associations, their home health company, nurses , pharmaceutical representatives, etc. While people are often encouraged to wear medic alert ID, they do not know anyone in the EMS system who may be caring for them in case of an emergency. Through this project, EMS providers will receive education regarding bleeding disorders and the treatment required in an emergency. This project will seek to connect the HTC's with the EMS systems locally and regionally to coordinate the education with the EMS professionals to provide care.