Hemophilia – The Bleeding Disorder

Ihad first learnt of Hemophilia as the Royal disease. Apparently, it was morecommonly known among European Royalty probably originating from Queen Victoria.The first references I had were about the undue influence that the monkRasputin had acquired over the Russian Royals because he was able to mitigatethe effects of Hemophilia in the young Russian Prince. The way he used hisinfluence was supposed to be one of the major contributory factors for theRussian Revolution in 1917.Hemophiliawould have remained another of the esoteric facts, that I seem to haveaccumulated over a lifetime of reading, but for the fact that my sister wasemployed by Hemophilia Federation of India (HFI) in Delhi.Thanks to her association I met with various hemophiliacs and had reason tounderstand the handicaps under which they live and the courage with which theylead their lives.Amongthe 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 clotsand stops the bleed. Well! It doesn’t for hemophiliacs or, at least, not soefficiently if their affliction is mild. The process of clotting involves theformation of a platelet plug at the point of the bleed, which is then held inplace by a fibrin layer. This fibrin layer has to be formed by a series ofreactions involving various coagulation factors. In Hemophiliacs, the blood isdeficient 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 formsfar more slowly than in a normal person. Small cuts like shaving cuts do notpose much of a problem because the platelet plug suffices but any more seriousbleed leads to severe blood loss.Whatcauses Hemophilia? The origins are genetic. Some ‘X’ chromosomes, apparently,carry a defective gene leading to low production or lack of production of therequisite blood coagulation factors. Women have two ‘X’ Chromosomes and, if oneof them is normal, the woman will not be a hemophiliac. For a woman to be ahemophiliac, therefore, it is necessary for her father to be a hemophiliac andher mother to carry a hemophilia gene, thus making it possible for a fiftypercent 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 hemophiliagene for the son has a fifty percent probability of being a hemophiliac. Comesto genetics, women seem to be the stronger sex!Thereis no permanent cure for Hemophilia, yet. The only way of treatment istransfusion of the appropriate blood factors when necessary. If diagnosed andtreated appropriately Hemophiliacs can lead long and productive lives. Theissue, however, is appropriate diagnosis and treatment. With the sort ofknowledge available, hemophiliacs have even gone undiagnosed. Horror storiesabound of doctors performing surgery without arranging to infuse the requisitefactors and thereby killing their patients – sometimes, even when they areadvised of the issue. (The Am-I-the-doctor-or-are-you syndrome!)Thesort of problems that lack of diagnosis of hemophilia can create has to be seento be believed. Untreated internal bleeds in the joints can disfigure them andcause the person to need crutches for the rest of his life. Periodic bleedingincidents – sometimes caused by trauma and sometimes spontaneous in severehemophiliacs – incapacitates them to the extent that they may need help for allthe necessary movements of life. The founder of HFI – Ashok Verma - had lost aleg due to bleeding and it was amazing how much energy and enthusiasm hebrought into his work for the benefit of Hemophiliacs when it would have beenso easy to sink into self-pity and a fear of losing his other leg! Indeed, thepeople whom I had reason to meet were all volunteers working for the cause ofHemophilia care – most of them Hemophiliacs with various degrees of disability– and their selflessness and love for life was a revelation to me.Hemophiliacssuffer from other problems as well. As is the case with most people requiringblood or blood product transfusions, there is always a risk of contractingHepatitis/HIV. For me, this is not merely a datum since I have met a couple ofyoung hemophiliacs, who were later cut down in their prime, due to HIVcontracted by infusion of infected blood.Meetingpeople who can live lives in good cheer, show compassion and sympathy to othersand make the most of their opportunities while living under the shadow ofdeath/disfigurement is an ennobling experience. The tragedy is that they dolive under the shadow of death/disfigurement only because of lack of properdiagnosis and treatment.