Thalassaemia cases cut by half
Doctors urge more action to eliminate blood disorder
The number of cases of the inherited blood disorder thalassaemia in newborns has almost halved.
Doctors attribute the fall to a far- reaching six- year medical and educational campaign, called UAE Free of Thalassaemia and launched in 2005, to reduce the number of newborn incidents to zero.
The campaign involved lectures, counselling and stringent screening.
Since the opening in 1995 of Dubai Thalassaemia Centre, at Latifa Hospital, formerly Al Wasl Hospital, 1,000 patients have been registered, an average of about 59 cases a year. Between 2005 and 2011, however, 217 cases were registered, an average of 31 new cases a year.
Of the 217 cases registered in the past seven years, 139 patients (64 per cent) were UAE nationals, and 167 patients (114 Emiratis and 53 non-nationals) had the condition diagnosed before the age of 6. There were also 34 cases of pre-natal diagnosis.
Dr Erol Baysal, director of the UAE Genetic Diseases Association, said the 1,000 registered patients did not accurately reflect the prevalence of the disease because cases in other emirates were not registered at the centre.
“We estimate that this number could in fact reach 2,000 or 3,000,” he said. “There are plans to open dedicated thalassaemia centres in Abu Dhabi, Sharjah and Ras Al Khaimah in addition to the centre established in Fujairah last year.”
As part of the campaign, all new students at Dubai Women’s College have been screened and advised of their haemoglobin levels, which are affected by thalassaemia. The college has its own thalassaemia laboratory at its Wellness Centre.
Similar programmes were introduced at universities across the country, including those affiliated with the Higher Colleges of Technology.
“We didn’t just look at Dubai, but we involved communities across all other six emirates,” Dr Baysal said. “You can see the results in the decision these students are making when they decide to have a family.”
There are two types of thalassaemia: alpha and beta.
Alpha thalassaemia involves four genes. Patients who have a single or double-gene mutation usually do not experience any symptoms, said Dr Fatheya Al Khaja, a thalassaemia specialist at the centre.
Those with three-gene mutations may require blood transfusions, and those with mutations of all four genes generally do not survive.
“These children are not compatible with life and will most likely die in-utero. However, we rarely see such cases here,” Dr Al Khaja said.
Alpha thalassaemia affects nearly 50 per cent of the Emirati population, although a majority are only carriers.
Beta thalassaemia, which involves two genes, is more prevalent in the UAE than in other countries.
It affects nearly 8 per cent of the population, compared with between 2 and 5 per cent in Greece, Turkey and Italy – countries known for high rates of thalassaemia.
If only one gene is defective, then the individual is a carrier and will not experience symptoms. However, if two genes are mutated, patients will require blood transfusions for the rest of their lives.
“This is why we place so much emphasis on the tests,” Dr Al Khaja said. “Because so many people may be carriers of the disease but do not know it.”
A premarital screening law for genetic diseases was introduced in 2006. However, Dr Al Khaja has been encouraging couples who were married before 2006 to be screened as well.
Thalassaemia is a recessive genetic disease, meaning both parents must carry the gene to pass it along. When that is the case, with each pregnancy there is a 25 per cent chance that a child will be born with the disease, a 50 per cent chance the child will only be a carrier and a 25 per cent chance the child will not be affected.
Newborns are screened for the disease using a heel-prick test as part of the national screening programme. Patients who require blood transfusion are said to have thalassaemia major. They require transfusions every three to four weeks to replenish their haemoglobin levels. The procedure, however, causes elevated iron levels in the blood.
The traditional way to reduce blood- iron is by injecting a patient with disferal, a medication that removes iron from the blood. The medicine is administered by pump, and patients must be medicated for at least eight hours a day.
“It’s a very cumbersome, inconvenient procedure for these patients,” Dr Baysal said, and they are often children. “It’s a painful exercise.”
A new tablet called Exjade was introduced five years ago and can replace this therapy with a daily dose. Those who have severe heart problems, however, may not benefit from the tablet.
Dr Al Khaja said a bone-marrow transplant is a possible cure for thalassaemia. But this treatment is “not available locally, expensive, requires a matched donor, and comes with its own set of complica- tions”. Such a procedure costs approximately $1 million (Dh3.67m).
Another option is a cord blood stem-cell transplant. Although the Dubai Cord Blood and Research Centre can isolate the stem cells, patients must travel abroad for the procedure, which costs more than $100,000.
While the decrease in incidence is promising, Dr Al Khaja said there is still room for improvement.
“We are still seeing a number of patients from outside Dubai, particularly from the Northern Emirates,” she said. “We still need more elaborate campaigns that target those areas.”