Abstract

Hemophilia A & B are congenital bleeding disorders affecting 1:10-20,000 population and 1:20 to 40,000 population respectively. Hemophilia represents the prototype of high cost low volume disease. Eighty persons of world hemophilia population lives in financially poor developing countries, where <2% of GDP is usually spent for total health care. In India, with a population of more than 1 billion and growth rate of around 2% atleast 2000 new hemophilia patients are born every year . On a conservative estimate 50% of them have severe disease and with modern treatment, will require additional USD 36,000/year/patient i.e a 36 million dollar incremental additional health care burden each year to manage these 1000 severe hemophilia patient. Which is added to our existing pool of haemophiliacs, estimated at 1,00,000- 1,20,000.

One of the ways to manage this challenge is to establish prenatal diagnostic centres, for hemophilia, spread widely for easy accessibility. These diagnostic centers can eventually develop into prenatal diagnosis centres for other diseases like common hemoglobinopathies and they should be equipped with modest molecular diagnostic facilities.

Presently there are a series of techniques of different levels of difficulties and complexities, available for foetal tissue sampling and laboratory detection of prenatal diagnosis of hemophilia, allowing a centre to chose the technology suitable for their expertise and financial capability.