Haemophilia is an inherited disorder that affects the body’s ability to form blood clots due to a deficiency of factor VIII or IX, but people with haemophilia can lead active, meaningful lives provided they receive factor replacement as well as a well-organised exercise routine to strengthen the muscles around the major joints. With advances in medicine and technology, as well as cooperative efforts among patient groups, physicians and the government for better access to factor, the management of this bleeding problem has improved over the past few decades.
In an interview with HT Lifestyle, Dr Kannan Subramanian, Consultant Haematologist, Sahyadri Speciality Hospital, Deccan Gymkhana, Pune, highlights the primary risks associated with the treatment of haemophilia –
1. Development of inhibitors:
This is one of the most challenging complications in the treatment of hemophilia. About 25 to 30% of patients develop inhibitors against the clotting factors used in their treatment, particularly in patients with hemophilia A. These inhibitors can make standard treatments less effective, requiring alternative strategies and sometimes more intensive treatment.
2. Viral transmission:
While today’s treatments are safer due to rigorous testing and the use of synthetic products, there remains a slight risk of viral infection with plasma-derived treatments. This is a reminder of the importance of continued vigilance in product safety.
3. Joint damage and arthropathy:
Persistent bleeding into the joints is a common problem for people with severe hemophilia, which can lead to long-term joint damage and pain. This is why it’s so important to stop the bleeding with regular treatment, although sometimes the damage builds up slowly over time.
4. Allergic reactions:
Some patients may experience allergic reactions to their clotting factor treatments, which can range from mild to severe. This risk is particularly seen with some factor IX products used in hemophilia B.
5. Cardiovascular risk:
As treatments improve and patients live longer, other health risks, such as cardiovascular disease, become more prominent. It’s important for treatment plans to consider overall health, including heart health, especially when traditional risk factors such as reduced activity may contribute to joint problems.
6. Emerging treatments and their risks:
New treatments such as gene therapy offer the possibility of long-term solutions, but they also carry uncertainties and risks, such as possible immune reactions or long-term effects, which are still being studied.
7. Complications arising from repeated infusions:
Regular infusions can be demanding and affect quality of life, especially for those who do not have access to the latest extended half-life treatments. Managing these can be a logistical and emotional challenge for many people.
“Effectively managing hemophilia requires a thoughtful, patient-centered approach that balances these risks with the benefits of treatment, aiming to provide the best possible quality of life. It is a collaborative effort between patients, families, and healthcare providers to navigate these complexities together,” explained Dr. Kannan Subramanian.
Dr. Shantanu Sen, Consultant, Paediatrics, Paediatric Haematology, Oncology and Stem Cell Transplantation at Kokilaben Dhirubhai Ambani Hospital, Mumbai, sharing his expertise said, “Haemophilia is a genetic disorder that impairs the clotting process, posing significant risks and challenges for people affected with this disease. Although advances in medical treatment have significantly improved the quality of life of people with haemophilia, the treatment of this disease is not without risks.”
“The main defect in haemophilia is the absence of clotting factors, which causes sufferers to bleed life-threateningly, sometimes even from minor injuries. Dental procedures such as tooth extractions can cause persistent bleeding and surgical procedures without replacing clotting factors can lead to severe bleeding and even death. A minor fall can cause bleeding into the joints, which can lead to lifelong disability due to joint destruction,” he explained.
According to Dr. Shantanu Sen, the main treatment for haemophilia is clotting replacement therapy, under which these factor concentrates are injected directly into the bloodstream. He said, “However, this essential treatment also carries the risk of developing inhibitors, which are antibodies that attack the infected clotting factors. Up to 30% of patients with severe haemophilia may have inhibitors. They can significantly complicate the management of the disorder, leading to frequent bleeding and reducing the effectiveness of treatment. Patients with high levels of inhibitors may be resistant to treatment and treatment may be difficult.”
Another major concern is the risk of infection. Dr. Santanu Sen said, “In the past, many patients with haemophilia were accidentally infected with HIV, hepatitis C and hepatitis B due to the use of contaminated clotting factors. Although modern blood testing techniques have reduced the transmission of these infectious diseases to a great extent, some risk still remains, especially if strict testing protocols are not followed. This highlights the importance of rigorous standards and constant monitoring to ensure the safety of blood products used in treatment. In a country like ours, the cost of haemophilia treatment is often a major burden for patients. Although blood-derived clotting factors are available to patients at a nominal cost in government hospitals, modern and safe replacement therapies are quite expensive, causing a severe financial burden or making them out of reach for many patients. For many patients in our country, the disparity in income levels means that these modern therapies will forever remain an unmet need.”
Dr. Shantanu Sen explained, “The most promising development in the treatment of haemophilia is gene therapy, which aims to provide a long-term solution by introducing the corrected version of the faulty gene to the patient. This is possibly the best and only cure for the disease. It is very expensive and will probably remain beyond the paying capacity of most patients in our country for many years to come, but even this cutting-edge therapy is not free from risks. Gene therapy involves unknown long-term risks, including abnormal immune response to the therapy or unforeseen genetic complications. The uncertainty about these outcomes necessitates ongoing and continuous research. While advances in treatment offer hope to haemophilia patients, the associated risks must be carefully managed. Continued research, improved safety measures and equitable access to modern treatments are critical to ensure the best possible outcomes for all patients.”
Dr Farah Jijina, Consultant, Clinical Haematology at PD Hinduja Hospital and MRC in Khar, concluded, “Haemophilia patients who are treated with factor concentrates can also develop problems. The biggest problem that occurs is the development of inhibitors, which makes treatment with factor ineffective. Treatment of haemophilia inhibitors is extremely expensive, and many of our patients are not able to afford it. In addition, patients can have breakthrough bleeds and further damage their joints and develop progressive joint disease. In children, prophylactic factor administration leads to problems of IV access and infection.”
