Thalassemia major on the rise in Pakistan
Approximately 5,000 children are diagnosed with beta thalassemia major every year in Pakistan. When two individuals with minor thalassemia traits marry, there is a 25% chance that their child will be affected by beta thalassemia major. Unfortunately, premarital diagnostic tests for thalassemia are often neglected, despite the existence of laws mandating such tests.
These revelations were made by medical experts at a thalassemia awareness session organised by the Mohammadi Blood Bank and Thalassemia Centre at Arena Multimedia IIC on Sunday. Samar Fatima, Project Coordinator of Mohammadi Welfare Foundation and Dr Kanza Pahnwar, a medical officer, delivered presentations to students and teachers at the session.
The event was organised to emphasize the importance of conducting blood group, blood screening, and other necessary diagnostic tests, including those for thalassemia, before marriage. These measures are crucial for safeguarding future generations from various diseases.
Samar Fatima and Dr Kanza stressed that citizens should undergo three diagnostic tests before marriage, including a blood group test, Hb electrophoresis, hepatitis B and C virus tests, as well as HIV/AIDS diagnostic tests.
They pointed out that knowing one's blood group before marriage can be invaluable during medical emergencies. Surprisingly, many people are unaware of their blood group, which can lead to complications, particularly when a pregnant woman requires blood, and her husband does not know her blood type. This lack of knowledge can be especially problematic for women with rare blood groups, as delays in obtaining the right blood type can endanger their life.
The medical experts also highlighted the potential transmission of infectious diseases between partners through sexual contact, as well as from an infected mother to her newborn child during pregnancy and breastfeeding. Regular blood screening tests can help prevent such transmissions.
Thalassemia, a genetic blood disorder affecting the production of hemoglobin, is divided into two types: alpha thalassemia and beta thalassemia. Beta thalassemia further consists of three types: beta thalassemia minor, beta thalassemia major, and beta thalassemia intermedia.
Efforts have been made to curb the spread of beta thalassemia, as when two thalassemia minor individuals marry, there is a 25% chance that their child will have beta-thalassemia major, a 50% chance of being a carrier, and a 25% chance of being normal.
Early diagnosis of beta thalassemia minor through Hb-electrophoresis is crucial. In Pakistan, the frequency of beta thalassemia carriers is estimated to be between five to seven per cent, with approximately 10 million carriers in the country. It's important to note that a thalassemia carrier carries at least one defective gene causing thalassemia but does not have the condition themselves.
Despite a law mandating diagnostic tests for thalassemia before marriage, compliance has been lacking. The medical experts emphasised that a significant portion of society avoids HIV/AIDS or hepatitis testing due to misconceptions, with some assuming that these infections result primarily from sexual contact.
In reality, most such infections stem from dental treatments, surgeries, shared personal items, prior blood transfusions, or exposure to contaminated needles or sharp objects. Treating these infections is expensive and often requires long-term care. Blood donation not only supports heart and liver health but also aids in weight management and reduces the risk of cancer.
The medical experts further pointed out that the Thalassemia Prevention and Control Program offers accessible preventive measures against this disease.
Published in The Express Tribune, September 18th, 2023.