On Monday, 17 April, World Haemophilia Day (#WHD2023) is commemorated globally. The initiative is driven by the World Federation of Haemophilia (WFH), the South African Haemophilia Foundation (SAHF) and supported by global healthcare organisations. These include Roche Pharma Southern Africa, a leader in haemophilia care and a global advocate for patient access and support. The #WHD2023 theme is “Access for All: Prevention of bleeds as the global standard of care”. To highlight the theme, Dr Nick Mangeya, Country Medical Director & Africa Genomics Programme Partnerships Lead at Roche South Africa, and Clerment Masoabi Sefojane, a young adult living with severe haemophilia and Chairman of the SAHF, outline some of the realities of this lesser-known disease in 2023.
Haemophilia is a genetic disorder that affects the blood’s ability to clot. This results in excessive bleeding from even minor injuries and even spontaneous bleeding in certain cases. The condition is caused by a deficiency in one of the clotting factors in the blood – typically factor 8 (haemophilia A – Classic haemophilia) or factor 9 (haemophilia B). The most common form of haemophilia is haemophilia A, caused by factor 8 deficiency.
Haemophilia is usually inherited. The mutation that causes the condition is passed down from parent to child, and it primarily affects males. Females can also carry the gene and pass it on to their children, but they are typically not affected by the disorder themselves – though there are exceptions.1
Speaking about the importance of World Haemophilia Day, Mr. Masoabi Clerment Sefojane, Chairperson of the South African Haemophilia Foundation said, “World Haemophilia Day serves as an opportunity to raise awareness about bleeding disorders, advocate for access to care, and mobilize resources towards addressing the challenges faced by patients with bleeding disorders, particularly in rural and underdeveloped communities.”
Says Dr Mangeya, “We are always looking for new ways to collaborate with key stakeholders including healthcare professionals, patient organisations and national healthcare systems, to understand barriers to access and to identify and deliver novel, tailored solutions to overcome local challenges and bridge current gaps in care for people with haemophilia all over the world.”
Most people with bleeding disorders in developing countries have no access to diagnosis, treatment and care. Because of this, children and adults who have haemophilia face an uncertain future.3
On World Haemophilia Day and beyond, generating widespread awareness is critical. At Roche, we aim to strengthen connections in communities to deliver effective haemophilia A treatments for all patients.
“We are collaborating with the haemophilia community to facilitate discussions and to increase understanding and awareness of the need for and benefit of effective haemophilia A therapy for all affected individuals.”
While haemophilia cannot be cured, people with haemophilia can live normal lives. Treatment involves replacing the missing blood clotting factor with a concentrate administered by injection so that the blood can clot properly.
As a result of treatment, however, up to one in five people with haemophilia develop an antibody (inhibitor) that prevents the clotting factor from working to stop bleeding. This inhibitor makes treatment for bleeding episodes much more challenging.
Sefojane elaborates on barriers to haemophilia care in Africa: “It is essential to understand that haemophilia is a condition that requires a multi-disciplinary treatment approach, including physiotherapy, rehabilitation, and mental health support. However, due to the lack of education and access to care, many people in underdeveloped communities are unable to get the proper treatment they require.
Mangeya concludes, “Education and access are the most powerful tools in addressing haemophilia. As healthcare providers, we are working to support patients’ understanding of their condition by spreading improved, useful and accessible information about the disease.
“Patients with haemophilia can live better lives through improved management of their condition. Let’s support more patients along their journey – building partnerships to understand and provide solutions for real, everyday hurdles – physical, psychological and social – that people with haemophilia A, and their caregivers, face.”
The Humanitarian Aid Programme – an initiative by the WFH – is working in partnership with Roche and other strategic partners to help address and improve access to haemophilia treatment in developing countries.
For decades, the only treatment for people living with haemophilia A was blood transfusions during or after bleeding events. In the current era, patients have more innovative choices in treatment, and partnerships of this nature are finding innovative vehicles to ensure that all patients everywhere have the same access to innovation.
By working toward a shared treatment vision for all, the WFH and all of its partners, including Roche, aim to address gaps in care and enable people with a high need for treatment to experience an improved quality of life and longer-term protection against bleeding episodes.
To find out more about haemophilia, visit https://www.roche.com/stories/a-to-z-in-haemophilia/ or https://haemophilia.org.za/.