Egypt doctors call for premarital screening to detect Thalassemia

Ingy Deif, Sunday 31 May 2015

The genetic blood disorder affects an estimated 9 percent of Egypt’s population

Photo: Reuters

Egyptian doctors have called for an obligatory premarital test to identify whose children are at increased risk of Thalassemia, a genetic blood disorder that already affects up to 9 percent of Egyptians.

Potential parents should undergo genetic screening to see if their children are likely to suffer from Thalassemia, specialists of the blood disorder said at a medical conference held by the Egyptian Thalassemia Association (ETA) and the Cairo University Hematology Unit in Cairo on 19 May.

Thalassemia “involves the absence of -- or errors in -- genes responsible for production of haemoglobin, a protein present in the red blood cells,” according to the World Health Organisation. “Each red blood cell can contain between 240 and 300 million molecules of haemoglobin. The severity of the disease depends on the mutations involved in the genes, and their interplay.

“[Thalassemia] is a genetic disorder that is passed over from parents to their children,” explains Dr Amal El Beshlawy, Professor of Hematology and Pediatrics and chairman of the ETA.

"A baby is born with the disease if both parents carry the gene, and as early as six months, blood transfusions should take place every three to four weeks to compensate for the shortage of haemoglobin.”

In Egypt, up to 7.65 million, nearly 9 percent of the population, suffer from Thalassemia, according to the ETA.

“[Thalassemia] significantly affects red blood cells, thus leading to severe anemia. Subsequently, the patient may suffer from excess iron in their blood due to excessive blood transfusions.”

"The problem is that, after a while, the blood cells break down and leave iron binding to vital organs like the heart and the liver, which eventually affects the function of these organs if left untreated, causing fatal problems to the person."

In Egypt, for years children were given shots to prevent iron accumulation, El Beshlawy explained, but today new oral medication, taken on a daily basis, can help children to receive their blood transfusions without the side effects of iron accumulation.

The tablets are a breakthrough, said Dr Mona El Tagy, Professor of Hematology and Pediatrics at Cairo University. Taken only once a day, they enable patients to carry on with their lives.

But there are still challenges.

A unified national treatment plan and protocol is needed, stressed Dr Lamis Ragab, Professor of Pediatrics at Cairo University.

“All government and health-ministry-affiliated authorities need to implement an intensive Thalassemia carrier detection campaign," she said, adding that it is vital that all doctors be trained on the correct techniques for detection and diagnosis.

Dr Hoda Hassab, Professor of Hematology and Oncology at Alexandria University, urged blood banks nationwide to provide easy access to safe blood transfusions and to develop modern means to diagnose Thalassemia.

Services and equipment at the El-Shatby Blood Bank at Alexandria University had already been improved to match international standards, she said.

There are several stages of Thalassemia, said speakers, with some carriers only experiencing low-level anemia that does not require treatment.

In the case of mid-level Thalassemia, sufferers start to become pale aged around 2, 8 or 9.

Severe Thalassemia cases become apparent during a child’s first six months to one year of life, with severity increasing gradually and treatment only possible with repeated blood transfusions.

Greece and Cyprus have successfully put into action a national premarital screening plan, experts said.

In Cyprus, where 14% are carriers of the Thalassemia gene, only one child is born each year with the disease.

In Egypt, up to 1,000 children in Egypt are born carriers of the disease in Egypt each year.

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