A case of blood loss

DIAGNOSE THIS

Haemophilia is a rare, genetic bleeding disorder that slows the blood-clotting process. Those suffering from hemophilia endure prolonged bleeding caused by a minor injury. In fact, in severe cases of hemophilia, there can be spontaneous internal bleeding. With an estimated prevalence rate of 1:100, there should be approximately one lakh individuals affected with hemophilia in India, out of which 60,000 are likely to be severe. However, only about 14,000 hemophilia  patients are registered. This means that many may be dying before they can get help, or not being diagnosed. This also means that hemophilia diagnosis and treatment in India are more or less rudimentary and not available easily across the country. There is also poor awareness among the medical fraternity.

Statistics indicate that India, together with China, Bangladesh and Indonesia represent only 10 per cent of the patients with hemophilia worldwide. These countries account for less than two per cent of the world concentration and there is a huge gap in hemophilia care between developed and developing countries.

However, the biggest issue in India is lack of awareness even among the urban educated class. Lack of reliable laboratory facilities is a major concern. This needs to be addressed.

Haemophilia is classified into haemophilia A and B. In haemophilia A, the amount of ‘Factor VIII’ is less or absent. Whereas, absence or less amount of Factor IX causes hemophilia B. Nearly 80 per cent of hemophiliac patients have a Factor VIII deficiency, i.e, they suffer from hemophilia A. Depending on the amount of coagulating factor present in the body, hemophilia is classified into mild, moderate or severe. In case of mild hemophilia, a person bleeds rarely while in severe hemophilia, he bleeds spontaneously and frequently. 

As it is a genetic disease, one needs to also understand that in the victim, specific genes are not properly working. Both types of haemophilia — haemophilia A and hemophilia B, are inherited in an X-linked recessive pattern.

The genes responsible for the production of Factors VIII and IX (deficiency of which leads to haemophilia) are located on the X chromosome. As males have only one X chromosome, even one altered inherited copy of the gene in each cell is sufficient to cause haemophilia.

However, as females have two X chromosomes only the mutation in both the copies of the gene can cause the disorder. That is why, it is almost unheard for females to have haemophilia and a majority of patients are male. Instead, the female is a carrier of the disease and has the potential of passing on haemophilia to her children.

A female carrier can transmit the trait to her sons. The daughter of a carrier will be a carrier too. Sometimes, even when there are no traces of haemophilia among the family lineage, a person may acquire haemophilia. This is due to a change, variation or mutation in the genes.

The right way

The primary treatment available is ‘Replacement therapy’ — a procedure that involves replacing the missing or deficient clotting factors (Factor VIII or IX, depending on the type of haemophilia) through regular infusions. Clotting factors can be derived from a number of treatment preparations. These, in order of increasing concentration and purity are:

*Whole blood treatment
*Fresh frozen plasma
*Cryoprecipitate
*Factor concentrates ( intermediate/pure and Recombinant)

Theoretically, these treatment preparations could be used to treat haemophilia. However, there are considerable drawbacks to the use of some of these preparations. In one unit of blood, the concentration of Factor VIII may be only about 50-80 units. Hence, the process may require large quantities of blood to compensate for the deficiency, running the risk of overloading circulation. In addition, all patients run the risk of transfusion-transmitted infections like HIV, Hepatitis B virus and Hepatitis C virus. 

The best available treatment is the Anti Hemophilic Factor (AHF) treatment. Factor concentrates have been employed extensively to manage hemophilia and to deal effectively with bleeding episodes. Derived from human plasma, these concentrates may be infused or injected directly into the bloodstream. They are available in both intermediate purity and pure forms. The purest factors are derived using special monoclonal antibody methods. 

Even though a complete cure still eludes us, modern medicine has very effective systems in place to manage and effectively treat this genetic disorder. Though gene therapy is a distant possibility, the best programme is to care till cure is possible.
 
(The author is a haematologist at St Johns Hospital, Bangalore.)