Haemophilia is a group of genetic disorders that impairs the body’s ability to clot the blood or blood coagulation, which is necessary to stop the bleeding when a person gets hurt. Haemophilia A (deficiency of factor VIII) is a more common disorder, while Haemophilia B (deficiency of factor IX) is rare. Every year, April 17th is celebrated as the World Haemophilia Day.
The disease is more likely to occur in males than in females. This is because females have two X chromosomes while males have only one, so the defective gene is guaranteed to manifest in any male who carries it. Women who inherit this defective gene act as a carrier and do not develop the ailment themselves. But, they have a high possibility to pass the gene to their children.
The birth rate for haemophilia in India is 32 per 1,000 births. People who suffer from severe haemophilia have a very short life span if they do not receive adequate and modern treatment. They barely reach maturity. But, in case of appropriate treatment, males with haemophilia lead a normal life with an average lifespan approximately 10 years shorter than an unaffected male.
There is usually a family history of this rare disease. However, in many cases the victim may not inherit but acquire haemophilia from a newer source.
Signs & symptoms
- The symptoms depend upon the individual and the severity of the condition:
- The various symptoms a patient of haemophilia can suffer from are:
- High susceptibility to bruising
- Prolonged bleeding after minor injury
- Blood in urine
- Painful swelling of muscles and joints due to internal bleeding
- Internal and external bleeding episodes known as ‘bleeds’
- Abnormally severe bleeding can occur after injury or surgery.
A blood test that includes a full blood count, blood film and blood clotting tests is conducted to detect the presence of haemophilia. Pregnant women can undergo ultrasound tests to know the chances of haemophilia in the baby.
The earlier the treatment is begun, less will be the bleeding and damage to the joints, muscles and organs. People with haemophilia are treated with injections of factor VIII – the missing clotting factor in the blood. Earlier, this used to be obtained from donated blood plasma, but now it is produced using genetically modified yeasts and is known as recombinant factor VIII. People who are suffering from mild haemophilia can have levels of their own factor VIII boosted using a drug called DDAP. But, as it is an inherited disease, the treatment is lifelong.