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60 mutations reported in beta-thalassemia patients

On the occasion of World Thalassemia 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 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.

Thalassemia is a genetic blood-related disorder due to absence or reduced production of haemoglobin. Thalassemia 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, thalassemia still represents a major public health concern.

In beta-thalassemia, 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 ancestries are at higher risk of being carriers of beta-thalassemia than are other populations. Beta-thalassemia is a recessively inherited genetic disorder that, in most cases, requires two defective beta-globin genes to trigger the disease.

Early treatment of beta-thalassemia 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-thalassemia 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-thalassemia 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-thalassemia 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.

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