During a recent gathering of young sufferers of thalassaemia and their parents, the question most often asked was about a 'revolutionary' oral drug - one that was said to be helping patients with the hereditary blood disorder in other parts of the world. Was it possible, asked the anxious parents, that they soon might have access to the same pill? Until an oral iron removal drug - called a 'chelator' - is made available, these often young patients have to go to bed every night with a needle embedded into their abdomen, attached to a pump, which has to stay in for at least 10 hours. The drug Desferal is delivered through the needle to remove excess iron from the patient's body, and the procedure can be as distressing for children as for the parents who have to administer it. A child born with thalassaemia major is afflicted with the disease for the rest of its life. An imbalance of globin proteins in the blood system results in the production of unstable red blood cells. The bone marrow expands to increase red blood cell production, causing the skull to enlarge, changes to the facial structure and the gradual thinning of long bones which easily succumb to fracture. The physical manifestations of the disease include delayed puberty, facial abnormalities, sexual and pubertal failure. But Dr Ha Shau-yin, consultant in the department of paediatrics at Queen Mary Hospital believes there is now a new generation of people who are surviving the disease. Patients are given full blood transfusions as often as once a month, which in turn leads to the build-up of toxic iron levels in the body. Hence the nightly ritual to administer Desferal. Unless this is done and excess iron removed, thalassaemic patients may succumb to heart failure, diabetes and liver damage. 'The transfusions and chelations are a lot for any patient to cope with,' said Dr Ha. 'A search for an oral chelation has been underway for about a decade. There have been lots of trials, but nothing has yet been proven effective,' he said. At the recent gathering of 200 sufferers and their parents, Dr Ha gave disappointing news. 'We told them [patients and parents] that for the moment, the only safe and effective treatment was the standard one.' Dr Ha conceded that the attendees were well within their rights to be disappointed. Parents of patients suffering thalassaemia major are often unknowing carriers of the thalassaemia gene, which is the most common genetic defect in the territory, affecting one in 11 of the population. There is a one in 900 chance that two carriers of the thalassaemia gene will have a child together, and 25 per cent of these pregnancies result in a child being born with thalassaemia major. The severe form of this hereditary blood disorder afflicts about 350 people in Hong Kong, many of them young children and adolescents. Proposed clinical trials at the Queen Mary Hospital were shelved after doctors heard of side effects caused by Deferiprone, the world's first oral iron chelator. Around the world, millions of dollars have been spent on research and clinical trials of Deferiprone, also known as L1, in a bid to create a drug that can help the estimated 300,000 people who suffer from the disease. Populations mostly affected include those in the Middle East, Southeast Asia and the Mediterranean. But medical experts and researchers vacillate between optimism and discouragement in their views. Dr Vasili Berdoukas, a paediatrician with Sydney Children's Hospital, said that a safe and effective form of L1 was 'at least five years away'. 'It's still a dream,' he said, during a recent visit to Hong Kong for a conference co-organised by the Children's Thalassaemia Foundation. Dr Berdoukas conceded that L1 had originally shown promise, but that occasionally severe side effects counteract any benefits: patients have been known to experience joint pains, weakened immunity and liver malfunction. 'The compound is effective, but not as effective as Desferal,' he said. Dr Ha described research trials into L1 as being 'very up and down'; in the early 1990s, multi-national pharmaceutical firm Ciba-Geigy abandoned trials on laboratory animals after discovering thymus gland abnormalities. Another thalassaemia specialist, Dr Nancy Olivieri, who is based at the University of Toronto in Canada, was at one time hopeful about the prospects of L1. But Dr Olivieri refused to comment on the drug, on the advice of her lawyer. Some clinical trials continue to be undertaken privately in Europe and Canada. Late last year, bio-technology firm Cangene Corporation of Ontario acquired the rights to develop the Deferiprone drug compound. More than C$8 million (HK$44.64 million) was originally spent on clinical development but a further similar sum is needed if research and clinical trials can be undertaken for Canadian, US and European regulatory approval. Doctors agree that there is less impetus to perfect the drug because 'the focus tends to be more on life-threatening conditions like cancer and heart disease', said Dr Berdoukas. He added that thalassaemia is often regarded as 'an orphan's disease' because it does not occur in wealthy countries: the incidence of the condition corresponds with regions where malaria has been endemic. Countries at risk include Burma, India, Thailand, parts of Italy, Spain and North Africa. A drug like L1, should it ever become an accessible and effective treatment, will make the lives of thalassaemia patients that much easier. 'Most people long for an oral drug, but we have had to make sure they get the message that it is not readily available in Hong Kong and that there have been side effects,' said Dr Ha.