World Haemophilia Day 2013
There are an approximate one lakh people affected with Haemophilia in India with a prevelance rate of 1:10000 with about 14000 being registered patients. The sad part here is that 75% percent of the people suffering from this disease cannot afford the treatment. Today being the world Haemophilia day, let us understand a few facts about this disease.
Haemophilia Facts
1. This is a blood clotting disorder that causes both internal as well as external bleeding. Even when such a person does not have external signs of damage he/she might bleed internally causing damage to his/her organs.
2. The internal bleeding can lead to a number of conditions like damage to the muscles of the joints due to excess blood pooling, brain and other internal organ damage due to bleeding leading to death.
3. There are many different types of haemophilia but the common of them are Type A (Classic) and Type B (Christmas disease). The former is caused due to lack of clotting factor VIII and the latter is caused by the lack of clotting factor IX.
4. Most common symptoms of haemophilia are heavy are incessant bleeding without any known cause, bleeding into joints, into the skin, tinge of blood in urine or stool, excessive bleeding of gums, excessive bleeding after injections, bleeding in the head of a baby after a difficult delivery. etc
5. This condition arises due to problems in one of the genes in the body which is responsible for producing the cells or factors that tell the body to stop bleeding after an injury. The absensce of some of the factors that this gene controls c an result into a patient bleeding uncontrollably. This gene is located in the first X chromosome. But it is more prevalent among males (XY) than females (XX). Thus women who have this faulty gene is known as the ‘carriers’ .
6. In a very rare condition both the chromosomes have faulty genes. This condition is specifically called ‘female haemophilia’.
7. Even though haemophilia is a genetic disorder, it does occur among families with no prior history. About one-third of newly diagnosed babies have no family history of haemophilia. These cases are thought to be due to a change to the gene’s instructions for making the clotting factor protein. It is also called a ‘mutation’ of the gene. This change or mutation can prevent the clotting protein from working properly or to be missing altogether.
8. Diagnosis includes screening tests and clotting factor tests. Ascreening test is a blood test that shows if the blood is clotting properly and a clotting factor test, also called factor assays, is used to see how long the blood takes to clot. This blood test shows the type of haemophilia and the severity.
9. Replacing the missing blood clotting factor is the best way to treat haemophilia. Commercially
prepared cloting factor is injected into a person’s vein for this. There are other methods for treatment too.
10. Resistance to the treatment: About 10-15 % people develop a resistance to the haemophilia antibody called the inhibitor. Treatment during such conditions are extremely difficult as the body does not respond to medication.
