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Blood disorder patients in ME have 60 types of mutations

DUBAI — More than 60 types of mutations in patients with beta-thalassaemia have been reported in the Arab world, according to an expert.

On the occasion of World Thalassaemia Day observed on Thursday, Dr Ghazi Tadmouri, Assistant Director, Centre for Arab Genomic Studies (CAGS) in Dubai, said a genetic study was carried out in Al Wasl Hospital recently which showed the presence of over 50 types of mutations in the UAE alone.

“Each country — Arab, Mediterranean or Asian — has its own characteristic spectrum of mutations. While some mutations appear in most countries, others seem to be regionally restricted paving the way for studies on their historical origins,” he explained.

According to Dr Tadmouri, there are 250 genetic variants of the disease. “Some of the carriers of these genes may show symptoms and others may not,” he said, adding that 54 mutations in the UAE was a huge number for any region.

He explained that the reason for this may be the increasing population, including of expats. “Since the clinic variability of the gene is high in this case, it may delay the implementation of a preventive programme as well as make screening difficult, though not impossible,” says Dr Tadmouri.

Thalassaemia is a genetic blood-related disorder due to absence or reduced production of haemoglobin. Thalassaemia is also the most commonly inherited single-gene disorder in the world with the highest prevalence in areas where malaria was or still is endemic (Mediterranean Basin, Australasia, the Americas and Africa).

In many parts of the world, thalassaemia still represents a major public health concern.

In beta-thalassaemia, the clinical presentation occurs from six to 24 months of age. The severity of the damage depends on the type of the gene mutation.

In the severe form, the bone marrow expands as it attempts to keep pace with the perceived need for new red blood cells, setting the stage for moderate-to-severe skeletal deformities and pain. If left untreated, affected infants fail to thrive and become progressively pale.

People with Mediterranean (including North African), Middle Eastern, or Southeast Asian ancestry are at higher risk of being carriers of beta-thalassaemia than are other populations.

Beta-thalassaemia is a recessively inherited genetic disorder that, in most cases, requires two defective beta-globin genes to trigger the disease.

Early treatment of beta-thalassaemia has proved to be very effective in improving the quality of life of patients. Long-term transfusion support is the backbone of conservative management in beta-thalassaemia patients to alleviate anemia.

Frequent blood transfusions usually lead to iron overload that is countered by iron chelation therapy to prevent damage to the internal organs.

Treatment of beta-thalassaemia major is currently an expensive option.

If untreated, the disease eventually leads to death usually by heart failure.

Therefore, genetic testing, counselling, and pre-natal diagnosis are very important in the prevention, management and treatment of this disease.

Beta-thalassaemia is endemic in almost all countries in the Arab world probably due to the historical presence of malaria in the region, and the high level of consanguinity.