Helping haemophiliacs lead a normal life

Helping haemophiliacs lead a normal life

The immense resourcefulness and perseverance displayed by researchers worldwide has meant continuously evolving treatment modalities and near normal life spans for haemophiliacs today. Even though a complete cure still eludes us, modern medicine has very effective systems in place to manage and effectively treat haemophilia.

The mainstay of treatment is Replacement Therapy — replacing the missing or deficient clotting factors (Factor VIII or Factor 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
-Factor concentrates
 ( intermediate/pure)
Theoretically, all these treatment preparations could be used to treat haemophilia. However, there are considerable drawbacks to the use of some of these preparations. Using whole blood, for instance has the disadvantage of overloading the circulation (which might lead to heart failure), as a large volume of blood is required to stop the bleeding. Moreover, since the activity of the clotting factors in drawn blood decreases very quickly with time the blood has to be fresh. The extremely high risk of viral infection also continues to haunt doctors and patients.

With Fresh Frozen Plasma (FFP), even though the life of the clotting factors gets prolonged, the problem of overload and high infection rate persists.

This brings us to Cryoprecipitate. Since this contains a high concentration of clotting factors, it is effective. Moreover, it is inexpensive and easy to produce. Viral contamination continues to be a big danger, however. Onto Factor Concentrates, then.
 Factor Concentrates have been employed extensively to manage haemophilia and 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 purer factors are derived using special monoclonal antibody methods.

Concentrates made from human blood have so far been the backbone of standard treatment modalities. The safety of these concentrates depends, to a large extent, on the methods employed to prevent, remove or inactivate viruses that may be present in the source plasma.

Treatment with commercial factor concentrate poses a few challenges:

1) Affordability
2) Persistent risk of contamination with Hepatitis B and Hepatitis C although rates of contamination and  infection are much less compared to other  blood derived products.
Even though the risk of contamination with HBV, HCV and HIV is real, safety measures developed by researchers have ensured that the incidence of these infections since the late 80s has been extremely low. The safety measures employed globally are:
- Donor Exclusion (careful screening of blood donors)
- Testing of donated blood products
- Inactivation or removal of pathogens

With safety measures in place, the safety of plasma derived factor concentrate has virtually been assured. It becomes extremely important however to ensure that these safety measures are practically implemented before patients are treated with the concentrates.

A stringent policy for blood product usage, universal Hepatitis C screening, Hepatitis B vaccination and continuous awareness programmes for medical staff and the general public will go a long way in preventing the transmission of these serious infections.
With the arrival of a new recombinant DNA derived clotting factor, haemophilia treatment worldwide has received a shot in the arm. This clotting factor, produced without the use of additives derived from human or animal blood, provides added reassurance against any theoretical infection risks that may arise from the use of blood-derived additives.
“Recombinant clotting factors cannot carry viruses and should therefore be preferred as far as treating haemophilia is concerned,” says Dr Dharma Ram Choudhary, haematologist, Sir Ganga Ram Hospital.

“It is eminently desirable that previously untreated patients with haemophilia receive recombinant clotting factors, if possible,” he adds.

Recombinant clotting factors work the same as natural clotting factors in blood. Recombinant clotting factors with much improved viral safety represent one more milestone in the effective treatment of Haemophilia. In consonance with the standard plasma-derived factors, these are poised to revolutionise haemophilia treatment in the days to come.

The need of the hour is to address availability & affordability issues so that living a normal life with haemophilia transforms into an attainable goal for haemophiliacs, even in third world countries.