Of all the haemophilia cases in India, just around 15% are identified while the remaining go undiagnosed. While there are about 16,000 haemophilia patients registered in the country, reports indicate that the number could be as much as seven times more, said experts.
Inherited disorder
Haemophilia is an inherited bleeding disorder in which a person lacks, or has low levels of proteins called ‘clotting factors’, and the blood does not clot properly as a result.
This leads to excessive bleeding. There are 13 types of clotting factors, and these work with platelets to help the blood clot.
Around half of the haemophiliacs in the world live in India, out of which 70% do not have adequate knowledge or access to treatment. This further exacerbates the risk of death, said K.K. Aggarwal, former president of the Indian Medical Association.
A release issued by Heart Care Foundation of India, headed by Dr. Aggarwal, noted that haemophiliacs can “experience spontaneous or internal bleeding and often have painful, swollen joints due to bleeding in the joints. This is a rare but life-threatening condition”.
Three forms
There are three forms haemophilia: A, B, and C. Doctors said that haemophilia is caused due to a defect in the gene that determines how the body makes certain clotting factors. The genes that code for these factors are located on the X chromosome, making haemophilia an X-linked recessive disease.
Haemophilia A and B are more common in males than females. Haemophilia C is an autosomal inherited form of the disease, meaning that it affects males and females equally.
Disease symptoms
Symptoms that indicate the need for immediate medical help, include severe headaches, frequent vomiting, neck pain, blurred or doubled vision, extreme sleepiness, and continuous bleeding from an injury.
There is no known cure for haemophilia.
The line of treatment in case of internal or external bleeding is to supplement the Antihaemophilic Factor level by fresh blood transfusion.
