For over a hundred years, the world has been privy to haemophilia or the ‘royal disease’. Yet, there is very little awareness about how this rare bleeding disorder actually works. It was rampant among European royalty of the late 19th and early 20th centuries due to arranged marriages between dynasties. Queen Victoria passed it on to several of her children and grandchildren, the most well-known of which was Alexandra Feodorovna, the last Tsarina of Russia. She eventually passed it onto her son, the Tsarevich Alexei, whose constant bleeding was a source of concern. Eventually, the family enlisted mystic healer Rasputin, whose influence over the Romanovs ultimately contributed to the fall of the Russian monarchy.
Why Gender Matters
So why did disorder affect the Tsarevich so intensely, but not his mother? Let’s break it down. ‘Essentially, haemophilia is caused by a genetic defect of the X chromosome. To put it simply, it prevents your blood from clotting, leading to severe blood loss,’ explains lab technician SK Janagi. ‘Women have two X chromosomes, while men have one X and one Y. If a woman has one faulty X chromosome, the other one usually compensates. However, men have just one X chromosome, and are therefore affected more severely by the gene mutation. The woman doesn’t show symptoms, but she can pass it on through a faulty X chromosome. Therefore, she is a carrier, and quite often, a guilty caregiver to an ailing son.’
The Impact On Women
Haemophilia affects one in every 10,000 people around the world and is passed on from parent to child. The Haemophilia and Health Collective of North (HHCN) has released statistics stating that India has the second-largest population of haemophilia cases in the world, with an estimated 1,36,000 cases. Although men’s symptoms act up in more pronounced ways, women can also be affected by haemophilia. It has been noticed that women with this disorder can suffer from heavy bleeding during menstruation or easy bruising. However, due to the preconceived notion that women aren’t impacted by it, the medical community is often dismissive of these symptoms. As a result, there is a delay in diagnosis, as well as inadequate care and poor quality of life.
The Emotional Strain
Women also carry the guilty burden of being carriers of the disease, which impacts their children’s lives adversely. Societal and cultural expectations can lead to feelings of shame and anxiety. If they have passed on the faulty gene to their child, they believe that they are perceived negatively by the communities around them. It is important that women in this position seek counselling and support in order to get past these feelings, especially if they occupy the challenging role of primary caregivers. Not only do they have to manage the healthcare needs of their child, they also have to provide emotional support, and help them readjust to a life that they are unable to lead to the fullest. Educational programmes are vital in reducing feelings of helplessness and isolation. Although this is a rare disorder, a support group is also necessary to enable women caregivers to share experiences, offer emotional support, and collaborate on initiatives.
How Can I Stop The Cycle?
Says Janagi, ‘In most cases, you cannot if you choose to reproduce spontaneously and naturally. However, if you want to be sure, the first step starts with testing. In a planned pregnancy, opt for genetic testing before you conceive to ensure that you’re not a carrier. But what if you are? The good news is that science has provided enough options that may help prevent passing it on if you’re open to using IVF. The Preimplantation Genetic Diagnosis (PGD) is a tool that tests embryos that for the haemophilia gene. It allows you to implant an embryo without the mutation. If you’re already pregnant, the foetus can be tested using Chorionic Villus Sampling (CVS). If the mutation is detected, you can make an informed choice about whether to go ahead with the pregnancy or not.’
Not Just Women
Although the X chromosome is associated with females, it isn’t just women who are haemophilia carriers. A father contains an X chromosome and a Y chromosome. If the X chromosome contains the gene mutation, he passes this on by default to his daughter. She could turn out to be a carrier, even if she doesn’t display active symptoms of the disorder. In short, haemophilia is a complex disease, and much depends on which chromosome your baby finally chooses.