Hemophilia is a genetic disorder characterized by spontaneous hemorrhage or prolonged bleeding due to factor VIII or IX deficiency. Annual incidence is estimated at 1/5,000 male births and the prevalence is estimated at 1/12,000 which causes increased bleeding and usually affects males. About 70% of the time it is inherited as an X-linked recessive trait, but around 30% of cases arise from spontaneous mutations.
Signs and symptoms
Characteristic symptoms vary with severity. In general symptoms are internal or external bleeding episodes, which are called "bleeds".Patients with more severe haemophilia suffer more severe and more frequent bleeds, while patients with mild haemophilia typically suffer more minor symptoms except after surgery or serious trauma. Moderate haemophiliacs have variable symptoms which manifest along a spectrum between severe and mild forms.
The reported number of patients with haemophilia A is 11,586 while the estimated prevalence could be around 50,000 patients. The most frequently cited incidence estimate for haemophilia is from Haldane, who estimated an incidence of 1 per 5,000 male births. Between 2009 and 2010, 260 new patients were reported from India while there were 1,38,41,667 male births. This implies that the incidence of haemophilia in India in 2010 was around 2 per 1,00,000 male births, or around 277 new patients being registered each year in the country. If the incidence of 20 per 1,00,000 is used, the number of affected new births in India in 2010 would be 2,768, that is approximately 0.01 per cent of total annual births in India.