‘Genetic anomaly can spread fast’

Al Balushi added, “The study at the British Journal of Haematology revealed that the red cells in this anomaly are baffling, as they have all the characteristics of the disease and can cause medium to extreme levels of pain. These cells, nicknamed ‘Oman Type Sickle Cells’ are also rather rare, and have been recorded in only 70 persons in the Sultanate.”

According to the publication, HBS Oman is considered the second rarest form of sickle cell. Carriers can also develop extremely painful symptoms. Al Balushi explained that the genetic anomaly can also spread fast, as it can be inherited and does not require both parents to have the disorder.

The World Health Organisation has also raised awareness over the dangers of thalassaemia.

“Alpha thalassaemia causes hydrops fetalis and perinatal death, often with life-threatening obstetric complications for the mother, and prenatal diagnosis usually leads to termination of pregnancy,” said Bernadette Modell, a professor who specialises in thalassaemia, and Matthew Darlison, who is a member of the World Health Organisation’s Collaborating Centres (WHOCC). “Some cases have recently been saved by intrauterine transfusion, despite a high risk of severe mental and physical handicap.”

“Inherited haemoglobin disorders (sickle-cell disorders and thalassaemia) were originally characteristics of the tropics and subtropics but are now common worldwide due to migration,” they added. “Since they can be controlled cost-effectively by programmes that integrate treatment with carrier detection and genetic counselling, WHO has recommended the global development of these services. However, service development can be unexpectedly challenging, because it requires the inclusion of genetic approaches in health systems.

Modell and Darlison also shared methods of prevention of thalassaemia in Oman. “A policy of detecting carriers and informing them of their risk, and possibilities for reducing it, usually leads to a fall in births and deaths of affected children,” they said. “Requirements are the same for thalassaemias and sickle-cell disorders. In most countries, the approach develops in three stages.”

“First, retrospectively informing parents with affected children of their 25 per cent recurrence risk allows them to limit the family size and, where average family sizes are typically large, this approach can significantly reduce affected birth prevalence,” they said.

“Second, introduction of prenatal diagnosis for couples with affected children enables them to have a family, but has little further effect on affected birth prevalence. Access may also be limited by economic, medical, social or legal factors. Third, information and prospective carrier screening is provided for the whole population.”