Today marks World Haemophilia Day, an international awareness day to raise the profile and improve understanding of haemophilia and other bleeding disorders.
Organised by the World Federation of Haemophilia (WFH), this year’s theme is focused on outreach and identification. More than 30,000 men, women and children in the UK have a diagnosed bleeding disorder, and the number rises each year. The two main types of haemophilia, A and B, are X-linked inherited disorders characterised by the deficiencies of clotting factors VIII and IX respectively. Although there is no cure, haemophilia can be effectively treated with replacement clotting factor concentrates. With carefully monitored treatment and proper care, people with haemophilia can lead normal, healthy lives with virtually no bleeds.
The Katherine Dormandy Haemophilia and Thrombosis Centre (KDHT), located in the Royal Free, is a comprehensive care centre providing a range of services for people with bleeding disorders, including haemophilia, von Willebrand’s disease, other inherited coagulation factor deficiencies and inherited platelet disorders. Founded over 50 years ago, it is the largest haemophilia centre in the UK. Under the direction of Professor Amit Nathwani, it was also one of the first to successfully pioneer the use of gene therapy in patients with haemophilia B.
Anne Riddell is head of the HSL coagulation laboratory attached to the KDHT centre. “There’s usually a family history of haemophilia, so we diagnose lots of patients as babies – often from cord blood,” she says. “Once on treatment, we regularly monitor their laboratory assays, checking treatment levels and for the development of any inhibitory antibodies. Inhibitors can develop in up to 20% of patients with haemophilia A and in up to 5% of those with haemophilia B, so this is a vital part of our work.”
The laboratory offers tests for a number of other inherited and acquired bleeding disorders beyond just haemophilia. “In North London we have the largest Jewish population in the UK. Haemophilia C (factor XI deficiency) is particularly prevalent in this community, so we see a lot of that too.”
The KDHT centre is part of the World Federation of Haemophilia’s twinning programme, which aims to improve haemophilia care in developing countries through a formal, two-way partnership. Twinned with Yangon children’s hospital and Yangon general hospital in Myanmar, the KDHT centre hosts a number of international doctors, nurses, scientists and physiotherapists each year to exchange knowledge and share best practice. The transfer of expertise, experience, skills and resources through the twinning programme is helping to improve the diagnosis and management of haemophilia on a global scale.
To find out more about World Haemophilia Day 2019, please visit: https://www.wfh.org/en/whd