KOCHI: Haemophilia is a rare genetic disorder characterised by the inability of the blood to clot properly, leading to excessive bleeding and bruising. There are two main types of haemophilia – A and B – caused by deficiencies in clotting factor VIII and clotting factor IX. Haemophilia affects millions of people worldwide, and there is currently no cure. However, recent advancements in personalised therapy and improved access to treatment offer some hope.
As a physician specialising in haematology, I have seen first-hand the devastating impact of haemophilia on patients and their families. Historically, haemophilia treatment has been limited to the replacement of the missing clotting factor through intravenous infusions. While effective, this approach is not without limitations.
Patients may require frequent infusions, which can be time-consuming and inconvenient. Moreover, long-term use of clotting factor concentrates can result in the development of inhibitors, and antibodies that neutralise the clotting factor, making treatment less effective.
However, recent breakthroughs in gene therapy and personalised medicine have the potential to revolutionise haemophilia treatment. Gene therapy involves the transfer of a functional copy of the clotting factor gene to the patient’s cells, which can then produce the clotting factor as needed.
This approach has shown promising results in clinical trials, with some patients achieving sustained expression of the clotting factor for over a year without the need for further treatment. Personalised medicine, on the other hand, involves tailoring treatment to the individual patient based on his or her genetic and medical profile. This approach can help identify patients at higher risk of developing inhibitors, allowing for earlier intervention and a more effective treatment strategy.
Furthermore, improved access to treatment is crucial in the management of haemophilia. Historically, access to treatment has been limited in many parts of the world due to high costs and inadequate infrastructure. However, recent initiatives have focused on improving access to haemophilia treatment for all patients, regardless of their location or economic status.
One such initiative is the World Federation of Hemophilia’s Global Alliance for Progress (GAP) programme, aims to improve access to diagnosis, treatment, and care for people with haemophilia and other bleeding disorders.
The programme focuses on capacity building, advocacy, and partnership development, working with governments, healthcare providers, and patient organisations to improve haemophilia care worldwide.
In addition, the development of extended half-life clotting factors has reduced the frequency of infusions required. Despite these promising advancements, challenges remain in the management of haemophilia.
Access to treatment and diagnosis remains a barrier in many parts of the world, and the high cost of gene therapy may limit its availability to some patients. Furthermore, long-term safety and efficacy data for gene therapy are still being evaluated, and the potential for adverse events and the development of inhibitors needs to be carefully monitored.
In conclusion, gene therapy and personalised medicine have the potential to revolutionise haemophilia treatment. Improved access to treatment, through initiatives such as the GAP programme, can ensure that all patients have access to the care they need, regardless of their location or economic status. However, continued research and investment are necessary to overcome the remaining challenges.
Medical Officer in charge of the Regional Blood Transfusion Centre and Regional Dialysis Centre, Aluva