I had first learnt of Hemophilia as the Royal disease. Apparently, it was more commonly known among European Royalty probably originating from Queen Victoria. The first references I had were about the undue influence that the monk Rasputin had acquired over the Russian Royals because he was able to mitigate the effects of Hemophilia in the young Russian Prince. The way he used his influence was supposed to be one of the major contributory factors for the Russian Revolution in 1917.
Hemophilia would have remained another of the esoteric facts, that I seem to have accumulated over a lifetime of reading, but for the fact that my sister was employed by Hemophilia Federation of India (HFI) in Delhi. Thanks to her association I met with various hemophiliacs and had reason to understand the handicaps under which they live and the courage with which they lead their lives.
Among the various things that we take for granted about our bodies is the fact that, when there is a minor to moderate bleed – external or internal, the blood clots and stops the bleed. Well! It doesn’t for hemophiliacs or, at least, not so efficiently if their affliction is mild. The process of clotting involves the formation of a platelet plug at the point of the bleed, which is then held in place by a fibrin layer. This fibrin layer has to be formed by a series of reactions involving various coagulation factors. In Hemophiliacs, the blood is deficient in one or the other of these factors – commonly factor VIII or IX. Thus, the platelet plug does form but the fibrin layer either does not or forms far more slowly than in a normal person. Small cuts like shaving cuts do not pose much of a problem because the platelet plug suffices but any more serious bleed leads to severe blood loss.
What causes Hemophilia? The origins are genetic. Some ‘X’ chromosomes, apparently, carry a defective gene leading to low production or lack of production of the requisite blood coagulation factors. Women have two ‘X’ Chromosomes and, if one of them is normal, the woman will not be a hemophiliac. For a woman to be a hemophiliac, therefore, it is necessary for her father to be a hemophiliac and her mother to carry a hemophilia gene, thus making it possible for a fifty percent chance of the daughter to be a hemophiliac. Men have one ‘X’ and one ‘Y’ chromosome and the ‘Y’ chromosome, being shorter than the ‘X’ chromosome, does not carry any corresponding gene to mask the effects of the gene in the ‘X’ chromosome. Thus, it is sufficient that the mother carries the hemophilia gene for the son has a fifty percent probability of being a hemophiliac. Comes to genetics, women seem to be the stronger sex!
There is no permanent cure for Hemophilia, yet. The only way of treatment is transfusion of the appropriate blood factors when necessary. If diagnosed and treated appropriately Hemophiliacs can lead long and productive lives. The issue, however, is appropriate diagnosis and treatment. With the sort of knowledge available, hemophiliacs have even gone undiagnosed. Horror stories abound of doctors performing surgery without arranging to infuse the requisite factors and thereby killing their patients – sometimes, even when they are advised of the issue. (The Am-I-the-doctor-or-are-you syndrome!)
The sort of problems that lack of diagnosis of hemophilia can create has to be seen to be believed. Untreated internal bleeds in the joints can disfigure them and cause the person to need crutches for the rest of his life. Periodic bleeding incidents – sometimes caused by trauma and sometimes spontaneous in severe hemophiliacs – incapacitates them to the extent that they may need help for all the necessary movements of life. The founder of HFI – Ashok Verma - had lost a leg due to bleeding and it was amazing how much energy and enthusiasm he brought into his work for the benefit of Hemophiliacs when it would have been so easy to sink into self-pity and a fear of losing his other leg! Indeed, the people whom I had reason to meet were all volunteers working for the cause of Hemophilia care – most of them Hemophiliacs with various degrees of disability – and their selflessness and love for life was a revelation to me.
Hemophiliacs suffer from other problems as well. As is the case with most people requiring blood or blood product transfusions, there is always a risk of contracting Hepatitis/HIV. For me, this is not merely a datum since I have met a couple of young hemophiliacs, who were later cut down in their prime, due to HIV contracted by infusion of infected blood.
Meeting people who can live lives in good cheer, show compassion and sympathy to others and make the most of their opportunities while living under the shadow of death/disfigurement is an ennobling experience. The tragedy is that they do live under the shadow of death/disfigurement only because of lack of proper diagnosis and treatment.