Thalassaemia must be prevented | The Daily Star
12:00 AM, May 09, 2021 / LAST MODIFIED: 12:00 AM, May 09, 2021

Thalassaemia must be prevented

Premarital screening should be mandatory to prevent the genetic disease

Thalassaemia is an inherited disorder that is passed down through parents to offspring and results in inappropriate structure or fewer amounts of red blood cell (RBC) in the body. RBC is mandatory to supply oxygen to about 15 trillion cells of the human body. This genetic disorder causes anaemia because of the destruction of the larger amount of RBC and that is why blood transfusion is most of the time mandatory in a regular interval for thalassaemia patients.

Approximately, 1-5% of the world population are carriers of thalassaemia. When two of such thalassaemia carriers marry and plan to have a baby, there is a one-in-four (25%) chance of having a thalassaemia affected child at every conception while a simple blood test for thalassaemia before marriage or before thinking about the baby will help couples to know if they are carriers or not. If both are non-carriers, they need not be worried about it.

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RBC consists of two proteins 'alpha globin' and 'beta globin' and thalassaemia occurs when the genes having defect which controls the production of these proteins. Because these two proteins are controlled by two separate genes, thalassaemia is classified as –  alpha thalassaemia and beta thalassaemia. However, by the consideration of the source of the faulty gene comes; thalassaemia is divided into two categories: thalassaemia major (faulty gene from both parents) and thalassaemia minor (faulty gene from only one parent). However, the minor case remains asymptomatic most of the time.

Maximum children show symptoms within the first two years if they have moderate or severe thalassaemia. To diagnose, a blood test is performed to see the number of RBC and abnormalities in size or shape. DNA analysis is also performed to look for the mutated genes.

Frequent blood transfusion, chelation therapy (removing excess iron from the blood), stem cell transplant or bone marrow transplant are considered the possible treatments for moderate to severe thalassaemia. Stem cell transplant is the treatment that can cure thalassaemia in some cases. But the problem is that only a small number of people who have severe thalassaemia can find a good donor match and have the risky procedure.

In Bangladesh, the Bangladesh Thalassaemia Foundation and Dhaka Shishu Hospital Thalassaemia Centre are two thalassaemia dedicated hospitals that can be mentioned among others.

The most important information is that most of the time being a carrier of thalassaemia gene does not show any symptoms and each child of unaffected carrier father and unaffected carrier mother has a 25% chance of being affected, 50% chance of being an asymptomatic carrier, and 25% chance of being unaffected and not a carrier.

According to a study by the Biomedical Research Foundation (BRF) published in the Orphanet Journal of Rare Diseases found that 67% of 1,578 college students of Bangladesh had never heard about thalassaemia and 39% of college students did not show willingness to donate blood for thalassaemia patients while 6-12% of the total population of Bangladesh are carriers of this disorder causing gene in their body. However, this research also suggests that 88% of students showed a positive response to pre-marital screening to prevent thalassaemia.

So, the government should emphasise on raising awareness of screening programmes to prevent this disorder, because the effective way to prevent thalassaemia is to reduce the birth of carrier offspring.

Tawhid Islam is a student of Pharmacy at Bangabandhu Sheikh Mujibur Rahman Science and Technology University.

E-mail: tawhidislam2021@yahoo.com

Dr Mohammad Sorowar Hossain is the Executive Director of Biomedical Research Foundation, Dhaka, Bangladesh.

Email: sorowar2002@gmail.com

Dr Muhammad Torequl Islam is an Assistant Professor of Pharmacy at the Bangabandhu Sheikh Mujibur Rahman Science and Technology University.

E-mail: dmt.islam@gmail.com

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