Haemophilia Explained: Treatments, Challenges, and What Lies Ahead

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For years, haemophilia has been seen as a lifelong condition that requires constant care and caution. But today, that narrative is slowly changing. Medical advancements are offering new hope-simpler treatments, fewer injections, and even the possibility of long-term solutions. Yet, despite this progress, many patients continue to face daily struggles, from treatment complications to accessibility issues.

We spoke to Dr Saifudeen A, Senior Consultant, Haematology Clinic, KIMSHEALTH, Thiruvananthapuram, who shared insights into the latest treatment advances, ongoing challenges, and what the future holds for people living with haemophilia.

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What Is Haemophilia?

Haemophilia is a genetic condition that affects the body's ability to form blood clots, making even minor injuries risky.

There are two main types:

• Haemophilia A - caused by a lack of clotting factor VIII
• Haemophilia B - caused by a lack of clotting factor IX

"The condition is usually inherited and is more common in males. Another related bleeding disorder, Von Willebrand Disease, can affect both men and women," added Dr Saifudeen.

How Is Haemophilia Treated?

The standard treatment involves replacing the missing clotting factor through injections. When taken regularly, these injections can:

• Prevent frequent bleeding episodes
• Protect joints from long-term damage
• Improve overall quality of life

However, treatment is not always straightforward.

When the Body Fights Back: The Problem of Inhibitors

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"One of the biggest challenges in haemophilia care is the development of 'inhibitors.' In some patients, the immune system starts attacking the injected clotting factor, making the treatment ineffective. This happens in about one-third of people with haemophilia A," said Dr Saifudeen.

As a result:

• Frequent bleeding episodes
• Joint damage and disability
• A significant drop in quality of life

What Happens When Standard Treatment Stops Working?

In cases where inhibitors develop, doctors turn to drugs known as 'bypassing agents,' which help the blood clot through alternative mechanisms. "While these agents can control bleeding, they are less reliable, carry a higher risk of excessive clotting, and require multiple injections, which can be exhausting for patients. In contrast, immune tolerance therapy aims to retrain the body to accept the clotting factor again. However, this approach is time-consuming, expensive, demanding, and not always successful," explained Dr Saifudeen.

New-Age Treatments: A Shift in Care

In recent years, new "non-factor" treatments have brought fresh hope. These medicines do not replace the missing clotting factor but work around the problem in other ways. They are given as simple injections under the skin and need to be taken far less often.

"One such medicine is Emicizumab, now widely used for preventing bleeding in haemophilia A patients, whether or not they have inhibitors. New medications under investigation include Concizumab and Fitusiran. They are much easier to take, and they have greatly enhanced the quality of life for many people. Nevertheless, physicians have reservations about them because some participants in clinical trials experienced severe blood clotting," said Dr Saifudeen.

The Role of Desmopressin (DDAVP)

Patients who suffer from haemophilia A with a low degree of severity can be effectively treated with Desmopressin (also known as DDAVP). This medication increases the concentration of factor VIII temporarily. The drug is effective in treating small injuries and minor surgeries. It can be administered via nasal spray. Unfortunately, Desmopressin cannot help patients with severe haemophilia.

Can Haemophilia Develop Suddenly?

"In some cases, haemophilia can develop in patients without any predisposition to it. This rare disease is called Acquired haemophilia A. It is characterised by the sudden development of auto-antibodies towards factor VIII. The disorder leads to unpredictable bleeding complications requiring prompt therapy," explained Dr Saifudeen.

Gene Therapy - The Answer?

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"One of the most significant breakthroughs in recent times has been gene therapy. This revolutionary treatment aims to replace the faulty gene with a normal one, addressing the problem at its root. It has shown highly promising results, with many individuals experiencing significant improvement even after a single treatment," said Dr Saifudeen.

In spite of the fact that gene therapy is expensive and rare, it offers hope to patients with haemophilia.

Quality Health Care Is Important

Haemophilia is a complex condition that requires specialised care. Haematologists with experience in treating haemophilia patients are better equipped to manage the condition effectively due to their expertise.

Future Prospects

Dr Saifudeen concluded, "There have been tremendous advances in the treatment of haemophilia. More recent medication has alleviated the issue of having too many injections. Nevertheless, problems such as inhibitors, expensive treatment regimens, and safety issues continue."

With further study into the issue, professional care and availability of more modern treatment options, there is reason to believe that those suffering from haemophilia may enjoy safer and healthier lives.