Lesser known facts about Haemophilia: Experts’ insights on origin of disease and its impact on males

In our country, haemophilia is often missed and in fact, it is often not diagnosed because of a lack of awareness about the disease, not only among the common people but also among the general medical profession. This leads to delay in the diagnosis, delay in the treatment and development of major disabilities for the patient.

In an interview with HT Lifestyle, Dr Santanu Sen, Consultant – Paediatrics, Paediatric Hematology, Oncology and Stem Cell Transplantation at Kokilaben Dhirubhai Ambani Hospital in Mumbai, shared, “Hemophilia, is a rare genetic disorder that is often known as the “Royal Disease”. Patients with the disease suffers from continued bleeding even from small wounds, due to inability of blood to clot spontaneously. While basic facts of the disease is well known, there are numerous other lesser known aspects of the disease which are not well recognised.”

He revealed, “The origin of the name goes back to Queen Victoria of England who was a carrier of the disease and she passed on the defective gene to her children. With her descendants marrying across the various European royal families, the disease spread across the Spanish, German and Russian aristocracy. Her own son, Prince Leopold was a sufferer from the disease and interestingly, so was the last Tsar of Russia, Alexai Romanov. In fact, the Tsar’s dependence on the infamous mystic Rasputin, was mainly because of his so called healing powers for the disease.”

Highlighting that the disease mainly affects males as the disease arises from a defect on the X chromosome, Dr Santanu Sen explained, “As males have one X and one Y chromosome, every male with a defective gene will have the disease. In contrast, females who have two copies of the X chromosome, would only be a carrier of the disease. So they can pass on the gene to their children, like Queen Victoria did, but they themselves would not suffer from the disease. Rarely though, should a carrier marry a male with the disease, their daughters too can have the disease as they may inherit two defective copies from both parents.”

He elaborated, “Two forms of the disease is well known, Hemophila A which results from deficiency of blood clotting Factor VIII and Hemophila B which is due to deficiency of Factor IX. Both of these forms arises from a genetic defect that is carried on the X Chromosome. However, there is a much lesser known variant known as Hemophila C which results from a deficiency of Factor XI. The inheritance is also different as it affects males and females equally and only happens if both parents are carriers of the disease.”

While the usual symptoms of the disease with continued bleeding from even minor wounds is well known, what is usually not common knowledge is that the disease causes much more damage from internal bleeding inside joints and muscles causing long term damage and morbidity. Dr Santanu Sen said, “The history of hemophilia treatment is both ground-breaking and tragic. The 1960s saw a revolution in treating the disease with the advent of clotting factor concentrates. Two decades later, the 1980s brought a crisis when blood products contaminated with HIV and hepatitis C led to widespread life threatening infections among hemophiliacs. This tragic history highlights the need for stringent checking and blood safety measures for all patients.”

He assured, “Today, we are moving forwards from the era of only treating patients when they have a bleed, to the era of using prophylactic treatment with regular infusions of clotting factors to stop all bleeds from happening. With this patients can have a much normal, healthy, active life without worrying about hurting themselves and bleeds and in future, we would be treating the disease with gene therapy which holds the promise of a permanent definitive one time cure for this ancient affliction!”

Bringing her expertise to the same, Dr Farah Jijina, Consultant – Clinical Hematology at PD Hinduja Hospital and MRC in Khar, shared, “The haemophilia treatment is with factor replacement. However, in the last seven to eight years, a lot of innovations have taken place. There are many newer treatments of haemophilia in the form of various monoclonal antibodies. These new molecules, bypass the need for factor concentrates and are also effective in patients with haemophilia inhibitors. They are given subcutaneously, the needle is very tiny, only 4 mm. Thus patients do not have to undergo the trauma of intravenous access.”

She added, “The frequency of the treatment is generally only once a month. Though these new modalities of treatment are expensive, we have used them in reduced doses as compared to the West and found them to be equally effective. There are practically no major side effects. Self-administration by the patient or caretaker is thus easy. This has led to very good compliance, reduced hospital visits, reduced bleeding episodes, and reduced absenteeism from school and work. Increase in patients’ confidence and self-reliance. In the long-run this becomes highly cost effective.”