Despite improvement in the medical technologies for the treatment of haemophilia, health experts believe that nearly 80 per cent of Indians with the serious blood disorder are not diagnosed due to the absence of proper diagnostic facilities in the remote areas.

India with nearly two lakh cases is estimated to have the second highest number of patients with haemophilia, a lifelong bleeding disorder that prevents blood from clotting, doctors said ahead of the World Haemophilia day on April 17. According to Haemophilia Foundation of India, the umbrella body for registration of the patient with the disorder, the cause of haemophilia is the inability of the body to produce the anti-haemophilic factor (AHF) in the required quantity.

There is no known cure for this disorder. If not diagnosed early, the repeated bleeding into joints, bones muscles may lead to synovitis, arthritis and permanent joint deformities. The bleeding itself can lead to wasting and atrophy of muscles. In a case study from New Delhi-based Sir Ganga Ram Hospital, Nasir Khan, a painter by profession, got to know about haemophilia when his three year-old son hurt himself and started bleeding profusely 10 years ago.

However, he ignored his condition that over the years became severe and caused a permanent joint disability. Dr Ruby Reshi, head of Pathology department at Government Medical College Srinagar in Jammu and Kashmir, said India is fast progressing in the field of haemophilia treatment but the core problem is of diagnosis.

"With only 20,000 registered patients for haemophilia in the country, there is a huge gap as the total number of people with the genetic disorder is not less than 2,00,000.

"There is a need for diagnostic centres that can help first of all in diagnosis and later make people aware about the seriousness of the health disorder," Reshi told PTI.

"Currently only about 20,000 patients are registered with Haemophilia Federation of India while over 1.5 lakh are still not brought under the registry until diagnosed. Over 80 per cent are undiagnosed. This needs to be bridged," said Dr Nita Radhakrishnan, assistant professor at Noida-based Super Speciality Pediatric Hospital 

Doctors said, though the government has done enough under the National Health Mission for haemophilia, proper diagnostic centres have not come up in remote belts of the country. Haemophilia 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 Haemophilia.
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 haemophilia in the family.

Women who have the haemophilia gene are called carriers, and they can pass it on to their children. Dr Rajesh Kashyap, associate professor Haematology department at Sanjay Gandhi Postgraduate Institute of Medical Sciences in Lucknow, UP, said that only expanding the net of diagnostic labs in the districts of the country can solve the problem of haemophilia.

"Until the diagnostic net is expanded neither haemophilia nor gravity of the problem can be known," Kashyap told PTI. Stating the tests for diagnosing Haemophilia are not expensive and can be done at district hospitals, Kashyap explained that there are two types of tests -- Activated Partial Thromboplastin Time (APTT) Test and Prothrombin Time (PT) Test.

"The PT and APTT screenings are blood tests that show if the blood is clotting properly. Currently the only challenge is about screening which has a huge gap in the rural parts of India, he said. Radhakrishnan said that treatment of haemophilia has undergone a lot of change in the last one decade.

"Earlier there was a situation when the patient went without medicines and would go for physiotherapy and other treatments as remedies.

"Today, though every state has been doing well in terms of ensuring treatment for the patients with haemophilia the major challenge remains diagnosis," Radhakrishnan said.