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Haemophilia: Genetic disorder affecting blood clot formation

by Kamal Salar

The human body is a very complex system. A lot of people have devoted their lives to the study of the human body and the various ailments affecting the human body. The recent years have seen a lot of research on the all-important genes and how they affect the offspring. Experts showed a great interest in studying about ancient practices and how a condition passes on from the family to the offspring. Genes play a very important role in the acquisition of characteristics by the offspring.What is haemophilia?

The human body has 23 pairs of gene groups or chromosomes, out of which 22 are known as autosomes and the remaining pair (called sex chromosomes) is X-Y in males and X-X in females. Autosomes are common to both males and females. Experts have clarified that haemophilia is a submissive condition and a hereditary defect. Haemophilia is a genetic defect that affects the X chromosome. In normal people, if there is a cut on the skin, the blood clots and the wound dries up in some time. Haemophilia represents the failure of the clotting system to completely arrest the flow of blood when the skin is cut. There is no clotting of blood when a haemophilic person is wounded, hence the bleeding is continuous and the person loses a lot of blood.

Haemophilia A is the most frequent condition. It is called severe haemophilia. The factor responsible for coagulation of blood is the ‘factor VIII’. This is absent in haemophilic people. There is another less frequent form of haemophilia, called Haemophilia B, caused by the absence of factor IX. The Y chromosome has nothing to do with producing the clotting factor. Hence, males are more likely to suffer from this disorder.

At times, there can be a spontaneous gene mutation. In such cases, families with no prior history of haemophilia might develop the disorder.

What exactly happens during clotting?

For every human, there is a certain clotting factor that stems the bleeding. The body has several proteins (about 12 clotting factors) that are involved with clotting. Normally, the body has quite low levels of these chemicals. But when there is a need (wound) the factors kick into action. They are produced at a greater rate to combat the bleeding and produce the clot. In normal people, as soon as they are wounded, there is a fibrin formation that stops the bleeding. This is formed by the coagulation factor in the blood plasma. This happens not only during external injuries but also internal injuries, like in the brain. But if these coagulation factors are absent, this could mean that the person will continuously bleed when wounded.
Does it mean women are not affected because they have X-X?

If you have observed the pattern, a greater number of males than females are affected by haemophilia. This is because men have only one X chromosome while women have 2. In case one X is affected, they have the other to compensate. But this does not mean that women do not carry the defective gene. Women having the defective X chromosome are called ‘carriers’. They directly do not suffer from the disorder but are likely to pass it on to offspring. If such a woman has a son and a daughter, the boy will be a haemophilic while the girl will again be a carrier.

Can haemophiliacs lead a normal life?

Of course they can! Why, one of the most famous haemophilic patients was Queen Victoria! While haemophilic people did not live long in the earlier days, today there are many support systems to help haemophilic people lead normal lives. Even if you have a haemophilic child, you need not worry about his health and life expectancy. In fact, your child will be like any other normal kid, attending school and participating in activities. While extreme sports like boxing are best avoided, there is no reason why the child cannot participate in other games. Haemophilia does not mean the person is handicapped. Your boy will be healthy.

Most parents fear that something might happen and hence, do not allow the kid to step out of the house. But this is a myth. Of course, accidents can happen, but rarely. This does not justify banning the kid from normal routine. Even the pregnant mother (with defective gene) worries about the baby inside her. The baby is safe because the womb has its own methods of safeguarding the baby. In fact, if the particular X chromosome of the mother (involved in fertilization) is not affected, the baby will not have the disorder! If the baby’s Rh factor is different from its parent, then the baby is usually safe from the disorder.

As for sex life, while haemophilic people feel uncomfortable about having sex, it is not prohibited. There are certain measures to take, advised for carrier girls and haemophilic men.

How do they treat haemophilia?

In the recent past, several experiments were carried out to see what could help the clot formation in haemophilic patients. The most common method was to have blood transfusions. Some time later, cryo-precipitation was introduced. Then the experts came up with the idea to extract factor VIII and inject it into human system. While there were developments, there were some scandals as well. In one case, HIV contaminated blood clotting factors were sold and several patients suffered. But today, we have come a long way ahead and have safe, though expensive products to help haemophilic people.

The treatment involves helping the clotting system through an external agent so that the bleeding is arrested. This treatment can be on-demand when there is an injury, or a regular treatment which involves frequent infusions of the clotting factor. Recombinant DNA technique has been used to isolate a healthy factor VIII, put it in a vector and use that to help the body produce clots when necessary. This goes by the brand name ‘Recombinate’.

Doctors advise haemophilic people to lead active lives and exercise regularly to keep their muscles strong and resistant to small injuries.

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1 comment

zodiacmaster101 April 1, 2008 - 6:10 pm

how many genes do males have for blood clotting

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