What is Hemophilia?

Short term effect of a Knee Bleed

Hemophilia is a genetic disorder in which the patient tends to bleed excessively. The peculiar thing about the transmission of this disease is that only the males suffer from it. The females are only the carriers. Unless and until the sufferer bleeds into a vital organ and dies, Hemophilia is not a killing disease. However, the type of life, it compels the effected man to lead, is such that it is hardly worth living with all the pain and torture and severe crippling of limbs, not a small number of Hemophilics have been known to end their life immaturely. The cause of Hemophilia is the inability of the body to produce the anti-hemophilic factor (AHF for short) in the required quantity. There is no known cure for this disorder. The line of treatment in case of an internal-bleed or external-bleed is to supplement the patient’s AHF level by fresh blood transfusion. However, in case of severe injury the blood required may be so much that the heart would not be in a position to take the load. Hence the need for concentrates of AHF. Fresh frozen plasma is twice as rich as fresh blood. Cryoprecipitate is twice as rich as FFP. Both these products are manufactured in India but still in many cases, the quantity required to be injected is still unmanageable by the body. In many countries, other than India, almost pure AHF has been isolated from whole blood and is so concentrated that a 50ml. injection contains AHF equivalent to almost 20 units of blood. However, being a human blood product, it is extremely costly, almost Rs.12/- per unit. And it is normal for a mild Hemophilic to use about 20,000 – 30,000 units annually.

Image Source: LA Kelley Communications, Inc. Long term effect of a Knee Bleed

How do people get Hemophilia?

Hemophilia is usually inherited and about one in every 5,000 males is born with the disorder. It cannot be caught or transmitted except through inheritance but can sometimes occur when there is no family history of Hemophilia. About one third of new cases are caused by a new mutation of the gene in the mother or the child. In these cases, there is no previous history of Hemophilia in the family.

Women who have the Hemophilia gene are called carriers, and they can pass it on to their children. When the mother is a carrier and the father does not have Hemophilia, for each child there is a 50% chance that a son will have Hemophilia and a 50% chance that a daughter will be carrier.