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Biotechnology and Society---Part
III
Genetic Diseases---Haemophilia
Clay is moulded to make a vessel but the utility of the vessel lies in the space where there is
nothing. Thus taking advantage of what is, we recognise the utility of
what is not. ----Lao-Tzu (600 BCE)
 In the previous article we hypothesised that DNA is tantamount to destiny in that what is coded in it, with errors and all, is what will be executed in the organism. The only intervention that could be attempted is external, such as a treatment for a disease (caused by a genetic defect) that afflicts an individual. Even such treatments do not come easy. They require careful study of the etiology (physiological origin) of the disease, epidemiology (geographic and demographic prevalence) of the disease, and the mechanistic details of the manifestation of the disease.
Biochemical studies followed by drug design and toxicological studies lead to assemblage of various pieces of information that can be devised into a treatment regimen. In the not too distant past, when people were afflicted with genetic diseases (such as diabetes, haemophilia, sickle cell disease, cystic fibrosis, or even cancer) one only went through the agony, hoping to live but just waiting to die. That was considered fate. But in recent times, advances in biotechnology have enabled us to conquer such afflictions in several categories of diseases.
While recognising the apparent inevitability of destiny, we also mentioned that persistent and determined efforts (what is known as
vidA muyarchi in Thamizh) can mitigate, if not totally undo, the dictum of destiny. We have ample examples in Hindu mythology for this. One example would be that of sAvitri and
satyavAn.
The princess chose satyavAn as her husband despite knowing that he was fated to die within a year. When the appointed lifespan of satyavAn came to an end, yamA (the lord of death) came to take away the soul of satyavAn and left his body lifeless. sAvitri, determined to get her husband’s life back, followed yamA and talked about truth, justice, righteousness and merit and using convincing arguments finally won her husband’s life back. The two aphorisms we quoted in the last article
‘muyarchi thiruvinaiyAkkum’ and ‘vithiyaiyum mathiyAl vellalAm’ ring true in this case.
We shall examine how such efforts can also help us in overcoming the afflictions caused by genetic deficiencies.
The information carried in our genes is not an infallible prophecy but just a blueprint planned by a master architect. Research enables us to understand the blueprint and to attempt to transform DNA from an inscrutable power into “molecular intelligence”, so to speak, and use the understanding for the benefit of humanity. Let us delineate the background of certain genetic diseases and the cure effected for those, using modern biotechnology.
Haemophilia: There are two types of haemophilia (A & B). In the human genome (all the genes put together) there are 23 pairs of chromosomes (clusters of genes) in every cell of which 22 pairs are called autosomes (common to both female and male) and one pair known as X-X in female and X-Y in male.
The X-X and X-Y pairs are called sex chromosomes. Haemophilia is an X-linked recessive (submissive) disorder characterised by the inability to properly form blood clots to arrest bleeding when there is a cut in a blood vessel.
The gene product known to be the crucial ingredient to clot blood is called
Factor VIII (haemophilia A). Until a few years ago, the hemophiliacs did not live long. It affects males much more frequently (1 in 10,000) than females (1 in 100,000,000). This is because males carry only one X chromosome while females carry two X chromosomes. If the gene responsible for blood clot is defective, haemophilia shows up. In women even when one X chromosome is defective, the other will compensate (it is unlikely to be defective in both X chromosomes) and thus they escape the disease but they are called “carriers” who transmit the defective gene to their offspring and the male offspring are bound to be haemophiliacs while the female offspring will continue to be carriers.
The hereditary nature of this disease was known as early as the 6th century CE as detailed in a passage in
Talmud (collection of Jewish oral tradition interpreting the Torah) which advised the avoidance of circumcision of a male baby if the baby’s maternal uncle was known to be a bleeder, long before Gregor Mendel (1822-1884) devised the rules of modern genetics.
Interestingly enough, haemophilia has an important royal and political history. Queen Victoria, who ruled Great Britain (and the British empire) from 1837 to 1901, was a carrier of the recessive disorder. She had a son (Prince Leopold) who succumbed to the disease at age 31. The queen also had two other daughters (of a total of nine children) who were carriers of the haemophilia gene. One of them (Alice) had a daughter by name Alexandra (also a carrier) who married Nicholas II, the last Tsar of Russia. The Russian royal couple had four daughters in a row and finally a son (heir to the throne) by name Alexis. Right from childhood Alexis suffered from haemophilia and the doctors could do nothing to help him. Rasputin, the notorious peasant-monk, came on the scene and was able to control the bleeding of Alexis through some mystical means. This ability gained him political clout but the resulting events alienated the monarchy from the masses. It was a major cause for the Russian Revolution of 1917 and the entire royal family of 7 was summarily executed in 1918.
Historians have remarked that if Alexis had not had haemophilia, Rasputin would not have gained power and there would have been no Russian Revolution. Haemophilia, a single mutation (change) in a single gene, may have helped change history’s course. It is a pathetic case of ‘For want of a horseshoe ……………..a kingdom was lost’.
Before the 1960s, blood transfusion and administration of plasma were the only remedies available and that too not quite reliable. In the ‘60s, a new method called cryo-precipitation was developed to separate the Factor VIII from blood plasma. This was a big improvement over blood transfusion. Later, in the 1970s, freeze-dried forms of Factor VIII were available which when reconstituted with pure water could be used for injection by the haemophiliacs anywhere. However, since the factor was isolated from human blood, there were problems with hepatitis C, and HIV infection.
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