KARACHI, May 8: Speakers at a World Thalassaemia Day seminar, organized by the Fatimid Foundation at the Karachi Club on Wednesday, underlined the need for creating awareness about the hereditary blood disorder so that it could be effectively prevented.

They cited the case of Cyprus and Italy, which previously had the highest incidence of the disease. Hence the name “Mediterranean thalassaemia”. They added that now in these countries, where blood screening before marriage was legally mandatory, not a single baby was born with thalassaemia.

In his message, the WHO official said that thalassaemia had been first diagnosed in Pakistan in 1956. He added that more than 100,000 people suffered from the blood disease in Pakistan.

World Health Coordinator Dr Ghulam Nabi Qazi absented himself from the seminar because of the situation in the city following a bomb blast on Club Road. His message was read out by the Fatimid Foundation chief coordinating officer.

Prof A. Ghaffar Billoo, chairman of the department of paediatrics at the Aga Khan University Hospital, said that about 5,000 children were born in Pakistan with thalassaemia every year. He added that no fewer than 50,000 children were afflicted with the hereditary blood disorder in the country.

“When parents are told that their newborn babies are struck with thalassaemia, their initial reaction is that of shock which soon gives way to anxiety. Then they explore all those methods of alternative treatment whose practitioners promise to eliminate the disease. This phase is followed by depression and suicidal tendencies.”

Shedding light on thalassaemia management techniques, Prof Billoo spoke about monthly blood transfusion. “A thalassaemia patient has to be given 250 millilitres of blood per kilogramme every year. He also has to be given folic acid, vitamin E, vitamin C and tea.” The other techniques included iron chelating therapy desferroximine (25mg/kg/day five days a week), splenectomy and bone marrow transplantation from compatible siblings.

He said that whereas the success rate of bone marrow transplantation was 80 per cent, the technique was very expensive, costing Rs1 million to Rs5 million. “Very few families can afford such a costly treatment for their children afflicted with thalassaemia.”

Enumerating the measures that should be taken to prevent thalassaemia, Prof Billoo said that, first and foremost, information should be disseminated about beta thalassaemia major. “People should be screened for thalassaemia. Marriage guidance programmes should be initiated.”

Dr Col Shoaib Ahmed, consultant haematologist at the PNS Shifa, spoke about the role of prenatal diagnosis in the prevention of thalassaemia. “The three cornerstones of prevention are: carrier screening, counselling and prenatal diagnosis.”

He spoke at length about the process of identifying the couple at risk. He also talked about two techniques used in diagnosing thalassaemia. “In retrospective diagnosis, the couples whose children are afflicted with thalassaemia are offered prenatal diagnosis during subsequent pregnancies. In this way, thalassaemia incidence can be brought down to 50 per cent.” He added that if thalassemia incidence had to be brought down more, doctors would have to go for prospective diagnosis.

Dr Ahmed said there were many misgivings about pregnancy termination. He said he had spoken to the late Dr Ghulam Murtaza who had maintained that pregnancy termination was permissible in the religion if a genetic disorder was detected. Allama Taqi Osmani had also endorsed this viewpoint.

The Sindh health minister, Ahsan Ahmed, said the provincial government had recommended establishment of a National Thalassaemia Foundation to the federal health ministry. “The NTF will set up comprehensive regional thalassaemia centres in the major cities of Pakistan for diagnosis, treatment and counselling of patients with Gooley’s anemia. These centres should serve as a one-stop facility for the needs of thalassemia patients and their families. Preference for the establishment of centres should be given to those areas where these disorders are present.”

He added that the NTF would also be tasked to provide patients with chelation drugs, infusion pumps, antibiotics and supplies at a subsidized cost through the Zakat Fund; to initiate and supervise large-scale population screening programmes for the red-cell genetic disorders; to establish the tools for monitoring and evaluating the ongoing programmes and these should include a national register to give information about birth rate, treatment and survival of patients and monitoring clinical parameters; to encourage prenatal diagnosis for thalasasemia by involving social and religious groups.

Dr S.M. Afaq, deputy director of the National Institute of Child Health, spoke about the social and financial aspects of thalassaemia. Dr Syed Mohammad Irfan, consultant haematologist at the Jinnah Postgraduate Medical Centre, shed light on the “role of non-governmental organizations in the prevention of thalassaemia”. Haji Mohammed Hanif Blue, president of the Wholesale Chemists of Council of Pakistan, assured the Fatimid Foundation of support and help.

In an evocative speech, thalassaemia patient Aijaz Agha spoke about the physical pain and anguish thalassaemia patients had to undergo every day.