What Is Haemophilia? Is There a New Cure for It?

It started like any other Sunday cricket match in the neighbourhood. Rishi, the star fielder, lunged forward for a catch anddddddddd……. missed. What should’ve been just another scraped knee turned into a bloodbath.

Panic set in, not because of the lost match, but because Rishi had haemophilia - a condition where even a small injury could spiral into something serious because the blood just doesn’t want to stop.

Now, imagine carrying that fear every day of your life, living with the knowledge that your body’s natural “brake system” for bleeding might be broken. Sounds exhausting, right?

But here’s where the story takes a wild, exciting twist. Indian scientists decided it was time to change the narrative.

You might be wondering, “how?”

Well, the Centre for Stem Cell Research (CSCR) at the Christian Medical College in Vellore, along with the Department of Biotechnology, pulled off something that felt almost magical - India’s first human gene therapy trial for Haemophilia A - a success for mankind and the nation.

Before we get into the great breakthrough, let’s dive into the itty-bitty part of what haemophilia is all about.

Haemophilia is a genetic disorder in which the blood doesn’t clot properly due to the absence or low levels of certain clotting factors, primarily Factor VIII (8—Haemophilia A) or Factor IX (9—Haemophilia B).

This condition leads to prolonged bleeding, even from minor injuries, and can cause internal bleeding as well, especially in joints and muscles.

In India, approximately 1.36 lakh individuals are affected by haemophilia.

Mind you, this is not a regular disease that can show its symptoms like any other. The basic thing about it is that people with haemophilia bleed longer compared to others.

And the bleeding isn’t restricted to just external injuries that could have happened with a cut, surgery, or dentist visit; you can also expect internal bleeding with haemophilia. It could be in joints or muscles.

Most common symptoms are -

• Easily bruising

• Heavy bleeding in normal cuts that is unstoppable

• Internal bleeding

• Excessive blood during menstruation and childbirth

Doctors determine the severity of haemophilia and how much a person lacks the protein factor, i.e., the inability to clot.

Depending on the normal FVIII range, that is 50 - 150%, in healthy individuals, the people suffering from haemophilia can be segmented in three groups.

Mild haemophilia (6-49%)

Bleeding happens after a typical cut or surgery, where the blood continues to flow for a longer period.

Most of the time, it is not even recognised until a major surgery takes place. For women, it can be noticed in excessive bleeding during menstruation.

Moderate haemophilia (1-5%)

People may have episodes of bleeding after the first injury. It takes longer to heal, and wounds may open up.

Severe haemophilia (less than 1%)

Similar to moderate bleeding episodes, they can have regular bleeding episodes, but for no proper reason. It is commonly seen in men after circumcision.

Haemophilia isn’t the kind that shows up with a neon sign ( like Predator, 1987). Sometimes it’s passed down through families, other times it completely catches you off guard after a knee scrape when the blood flows like the river Nile.

Doctors usually run a few blood tests to check how long it takes for your blood to clot and whether clotting factors like FVIII or IX are missing or low in numbers. The lower the level, the more severe the condition. This test is termed an assay.

Since haemophilia is a genetic disease, they might also test close members of your family to rule out the cause.

And lastly, you have bleeding assessment tools where the health practitioner may have questionnaires regarding the history and severity of bleeding.

Now, here is where things get both impressive and slightly exhausting. The traditional way of treating Haemophilia is with -

Replacement therapy

The name was pretty obvious, and it’s a gold standard. You basically get infusions of the missing clotting factor. There are two kinds in this as well.

Prophylactic - Regular doses to keep bleeding at bay

On-demand - Only during injuries or bleeds

Synthetic hormone

Synthetic hormone therapy for Haemophilia A uses desmopressin (DDAVP), a man-made form of vasopressin, to temporarily raise Factor VIII (FVIII) levels.

It works by stimulating the release of stored FVIII and von Willebrand factor from blood vessel linings, making it effective in people with mild to moderate Haemophilia A who still produce some FVIII. It’s usually given by injection or nasal spray before procedures or to control minor bleeding.

Human Gene Therapy (under process)

It’s new and exciting for the country, and will mostly be affordable compared to the others since it’s being made here. But what sets this therapy apart from the rest is that instead of pumping patients with external clotting factors for life, they rewired their bodies, tweaking their own stem cells to produce the missing factor.

And the best part of this new trial? Not a single bleeding episode was found on the patients… nothing less than a historic victory.

So now Rishi (from the lane) can live like any other neighbour without the fear of what will become of the wound. And I know, it’s early days for sure, but the results are promising. If future trials go well, the treatment will become widely available. It could completely change the way haemophilia is treated.

From endless management to somewhat of a cure.

This innovative treatment involves extracting a patient's own hematopoietic stem cells HSCS), modifying them with a lentiviral vector carrying a functional copy of the Factor VIII gene, and reintroducing them into the patient's bloodstream.

Once infused, these engineered HSCS differentiate into blood cells capable of producing Factor VIII, thereby addressing the underlying deficiency that causes Hemophilia A. ​

In a single-centre study involving five participants aged between 22 and 41 years, the therapy demonstrated remarkable results. All participants exhibited stable Factor VIII expression, with activity levels correlating to the vector copy number in peripheral blood.

Notably, the annualised bleeding rate was observed to be zero for all five participants over a cumulative follow-up of 81 months, effectively eliminating the need for repeated infusions. ​

Women are often blamed for being the carriers of the haemophilia gene, but they are not just carriers, they are sufferers too, and the lack of awareness on this matter is something to be looked at for a better future.

Although the new findings are very promising and grant us better knowledge of the disease, further research and clinical trials are necessary to confirm the therapy’s long-term efficacy and safety.

Nonetheless, these developments mark a significant step forward in the treatment of haemophilia and offer hope to thousands affected by it.

Q. What is Hemophilia?

A. Haemophilia is a rare genetic bleeding disorder where the blood doesn’t clot properly due to a deficiency or absence of clotting factors, typically Factor VIII (Haemophilia A) or Factor IX Haemophilia B).

Q. How is Hemophilia Inherited?

Haemophilia is usually inherited in an X-linked recessive pattern, meaning the faulty gene is located on the X chromosome. Males (XY) are more often affected, while females (XX) are typically carriers.

Q. Is Haemophilia Sex-Linked?

A. Yes, haemophilia is a sex-linked disorder. It is carried on the X chromosome. Since males have only one X chromosome, inheriting the faulty gene means they will have the condition. Females, with two X chromosomes, are usually carriers unless both copies carry the mutation.

Q. Can Females Have Haemophilia?

A. While rare, females can have haemophilia if they inherit two defective X chromosomes or if one X chromosome has the mutation and the other is inactivated (a phenomenon called skewed X-inactivation). More commonly, female carriers may experience mild bleeding symptoms.

Q. What Is the Life Expectancy for someone with Haemophilia?

A. With modern treatments, people with haemophilia can live near-normal lifespans. However, untreated or poorly managed haemophilia can lead to serious complications and reduced life expectancy.