Haemophilia: some tips

THIS is apropos the piece written by your staff reporter on April 18 on the occasion of World Haemophilia Day.

I have a haemophilic son who is 34. As such, I have been researching the subject since his birth and would like to share the following information with readers. Haemophilia is referred to as a royal or blue-blooded disease because it occurred mostly in families of monarchs and nobles due to in-breeding. The most famous patient was the son of Russian Czar Nicholas.

Haemophilia is a genetic disorder which reduces blood’s ability of clotting due to deficiency of clotting factor VIII or IX. Internal bleeding causes swelling of joints and severe pain. There is no cure but it can be controlled by transfusing bags of blood products such as cryoprecipitate (CP), fresh frozen plasma (FFP) or vials of the deficient clotting factor (VIII or IX, as required) for relief from pain and swelling or to stop external bleeding after injury, surgery or tooth extraction.

Haemophilia is caused by a defective X chromosome in the DNA or genetic code which is passed on from father to daughter and from daughter to son. The symptoms of the disease show up only in males because they have only one X chromosome (the other being a Y) while females are carriers having one healthy and one defective X chromosome. The healthy X chromosome ensures adequate production of clotting factor in females.

Haemophilia is usually diagnosed after circumcision because the bleeding does not stop easily. The boys can lead a healthy and productive life if immediate medication is provided by keeping a vial or two of the clotting factor at hand.

As a precaution against hepatitis from infected blood products and syringes, they should be vaccinated against hepatitis B as soon as haemophilia is diagnosed.

To prevent descendents from inheriting the disease, girls must be tested for factor VIII or IX deficiency before marriage. If the level is below the minimum limit of 50pc, they are carriers and will produce one affected offspring out of every two.

Haemophilic boys should either not marry, or marry infertile women. In any case, they should not father children as their daughters are bound to be carriers, who are instrumental in propagation of the disease.

A.J.

Karachi