KARACHI, July 15: At least six thousand children are born with thalassaemia major — an inherited defect in the formation of haemoglobin — every year in Pakistan.

According to a report published by the Jinnah Postgraduate Medical Centre, as many as eight million people in the country are afflicted with thalassaemia minor. The report adds that 60-70 per cent children suffer from Hepatitis B or C. The same number of children die before they are 10 years old.

“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,” the report points out.

“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 and vitamin C. The other techniques include iron chelating therapy desferroximine (25mg/kg/day five days a week), splenectomy and bone marrow transplantation from compatible siblings.”

The report, prepared by Dr Mohammad Irfan of the Jinnah Postgraduate Medical Centre, mentions that while the success rate of bone marrow transplantation is 80 per cent, the technique is very expensive. “Very few families can afford such a costly treatment for their children afflicted with thalassaemia.”

“First and foremost, information should be disseminated about beta thalassaemia major. People should be screened for thalassaemia. Marriage guidance programmes should be initiated.”

The report stresses the role of prenatal diagnosis in the prevention of thalassaemia. “The three cornerstones of prevention are: carrier screening, counselling and prenatal diagnosis.”

“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. If thalassaemia incidence has to be brought down more, doctors will have to go for prospective diagnosis.”

The report suggests that married couples should screen themselves for thalassaemia minor so that their children are not thalassaemia major. “The test that is carried out to determine whether a child to be born has thalassaemia major or not is called CVS. This test has to be performed on a woman eight to ten weeks pregnant.”

It points out that this test is not painful and its result is almost 90 per cent accurate. “If the result shows that the child has thalassaemia major, then abortion is recommended. This is permissible even according to the religion.”

The report suggests that the couple afflicted with thalassaemia minor should keep their families small. “If either of the parents has thalassaemia minor, then there are 50 per cent chances that the child will have at least thalassaemia minor which will in turn increase the chance of thalassaemia major.”