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Haemophilia is often undiagnosed in our country and in fact, it often goes undiagnosed due to lack of awareness about the disease, not only among the general public but also in the general medical profession. This leads to delayed diagnosis, delayed treatment and development of severe disability in the patient.
In an interview with HT Lifestyle, Dr. Shantanu Sen, Consultant, Paediatrics, Paediatric Haematology, Oncology and Stem Cell Transplantation at Kokilaben Dhirubhai Ambani Hospital, Mumbai, explained, “Haemophilia is a rare genetic disorder that is often referred to as the “royal disease”. Patients suffering from this disease bleed continuously, even from small wounds, as the blood does not clot on its own. While the basic facts of the disease are well known, there are many other lesser-known aspects of this disease that are not well recognised.”
He explains, “The name originates from Queen Victoria of England, who was a carrier of the disease and passed on the faulty gene to her children. Her descendants married into various European royal families, spreading the disease to Spanish, German and Russian aristocracy. Her own son, Prince Leopold, suffered from the disease and interestingly, the last Tsar of Russia, Alexei Romanov, also suffered from the disease. In fact, the Tsar’s reliance on the infamous mystic Rasputin was primarily due to his so-called healing powers for the disease.”
Dr. Shantanu Sen highlighted that the disease mainly affects males as the disease arises due to a defect in the X chromosome. He explained, “Since males have one X and one Y chromosome, every male with the defective gene will have the disease. In contrast, females who have two copies of the X chromosome will only be carriers of the disease. So they can pass on the gene to their children, like Queen Victoria, but they themselves will not suffer from the disease. However, rarely, if a carrier marries a male with the disease, their daughters may also have the disease as they may inherit two defective copies from both their parents.”
He elaborated, “There are two well-known forms of the disease, Haemophila A which is caused by a deficiency of the blood clotting factor VIII and Haemophila B which is caused by a deficiency of factor IX. Both of these forms result from a genetic defect that is carried on the X chromosome. However, there is a much lesser known form known as Haemophila C which is caused by a deficiency of factor XI. The inheritance is also different as it affects males and females equally and only occurs if both parents are carriers of the disease.”
The common symptoms of the disease, persistent bleeding from even minor wounds, are well known, but what is not generally known is that the disease causes much more damage with internal bleeding inside joints and muscles, leading to long-term damage and morbidity. Dr. Santanu Sen said, “The history of treatment of hemophilia is both unprecedented and tragic. The 1960s saw a revolution in the treatment of the disease with the advent of clotting factor concentrates. Two decades later, a crisis occurred in the 1980s when blood products contaminated with HIV and hepatitis C led to massive life-threatening infections among hemophilia patients. This tragic history highlights the need for strict screening and blood safety measures for all patients.”
He assured, “Today, we are moving from the era of treating patients only when bleeding occurs, to the era of using prophylactic treatment with routine infusions of clotting factors to stop all bleeding. This will allow patients to live a normal, healthy, active life without worrying about hurting themselves and bleeding and in the future, we will cure this disease with gene therapy that promises a permanent definitive one-time cure for this ancient disease!”
Sharing her expertise, Dr Farah Jijina, Consultant, Clinical Haematology, PD Hinduja Hospital and MRC, Khar said, “Haemophilia is treated with factor replacement. However, there have been many innovations in the last seven to eight years. There are several new treatments for haemophilia in the form of various monoclonal antibodies. These new molecules bypass the need for factor concentrates and are effective even in patients with haemophilia inhibitors. These are given subcutaneously, the needle is very small, only 4 mm. Thus patients do not have to undergo the trauma of intravenous access.”
He said, “Usually the frequency of treatment is once a month. Though these newer modes of treatment are costly, we have used them in lower doses than in the West and found them to be just as effective. There are practically no major side effects. Hence the medication is easy to self-administer by the patient or the caregiver. This has led to very good compliance, reduced number of hospital visits, fewer bleeding episodes and reduced absenteeism from school and work. Patients have an increased confidence and self-reliance. In the long run it becomes highly cost effective.”
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