Haemophilia Day: Let Us Paint It Red for a Cause!

Haemophilia Day: Let Us Paint It Red for a Cause!

Have you noticed some people have a tendency to bruise easily in early childhood, or have excessive bleeding from cuts that takes a long time to stop? What many don’t know is that a certain population of people suffer from a well-known genetic bleeding disorder: Haemophilia.

What Is Haemophilia?

Haemophilia A is a bleeding disorder caused by a deficiency of clotting factor VIII; Haemophilia B is caused by a deficiency of clotting factor IX. Both are genetic conditions, most cases identified at birth. In around two-thirds of cases, there is a family history of Haemophilia A. The remaining cases are caused by spontaneous mutations.

Haemophilia mainly affects males. Females can be ‘carriers’ of the affected gene and may experience symptoms. The clinical severity varies from mild (5–40% clotting factor activity) to moderate (1–5%) to severe (<1%), determined through blood tests.

The Genetics of Haemophilia

Haemophilia is caused by mutations in genes responsible for making clotting factor proteins, located on the X chromosome. Males (XY) develop haemophilia if they inherit an affected X chromosome from their mother. Females (XX) can develop the disease only if both X chromosomes are affected — much rarer. A female with one affected X chromosome is a “carrier” and can pass the mutation to her children.

Haemophilia can result in:

• Bleeding within joints, leading to chronic joint disease and pain

• Bleeding in the head, causing seizures and paralysis

• Excessive bleeding to vital organs such as the brain, which can be fatal

Facts and Stats

• Worldwide incidence is estimated at more than 400,000 people

• There is currently no cure; treatment involves lifelong infusion of clotting factor concentrates

• Haemophilia is among the top six bleeding disorders in India; the reported number of patients with Haemophilia A is 11,586, while the estimated prevalence could be around 50,000

• India does not have a national policy on the prevention and control of such genetic disorders

Early Detection and Carrier Testing

In cases of known family history, baby boys are tested soon after birth. About one-third of babies diagnosed with haemophilia show a new mutation absent in their family members. Carrier analysis tests include:

• Haemophilia-A Carrier analysis at intragenic markers (BclI & XbaI RFLP)

• Haemophilia-B Carrier analysis at intragenic markers (HhaI, DdeI, TaqI)

A Word from Us

• Families with a Haemophilia history should be genetically tested

• Consider genetic counselling before family planning

• Cuts and open wounds should be treated with caution

• Learn and spread knowledge about the severity of the condition