Thalassemia is a genetic disorder that affects the red blood cells, leading to a lack of oxygenated blood supply to the body parts (anaemia). This condition can be inherited from parents who have either or both thalassemia genes, and it is more likely to occur in couples who have similar genetic makeup. Chief Executive Officer Islamabad Healthcare Regulatory Authority (IHRA) Dr Quaid Saeed has shed more light on this disease on the occasion of World Thalassemia Day, which is celebrated on May 8th every year.
Types
Thalassemia can be broadly classified into two main types: major thalassemia and minor thalassemia. Major thalassemia is a severe form of the condition that requires lifelong medical treatment such as blood transfusions and chelation therapy. It occurs when there are missing or mutated genes that produce alpha or beta globin proteins, leading to a significant decrease in the production of normal red blood cells. On the other hand, minor thalassemia is a milder form of the condition that typically does not require treatment. It occurs when a person inherits one abnormal thalassemia gene from one parent and one normal gene from the other parent, resulting in a mild decrease in the production of normal red blood cells.
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Prevention is Key
While there is no known cure for thalassemia, some measures can reduce the risk of having this disease in newborns. Dr Saeed highlights the importance of parent genetic testing for the presence of the thalassemia gene, prenatal screening, preimplantation genetic diagnosis, and provision of public awareness and education about thalassemia. These steps can help in identifying the disease at a young age and can help parents make informed decisions about family planning.
The Burden of Thalassemia
Thalassemia affects pregnancies worldwide, and many cases of this disease have been reported in Pakistan. It is a significant health burden, and the treatment for major thalassemia can be expensive and may involve stem cell transplants, continual blood transfusions, and chelation therapy. It is, therefore, essential to prevent congenital defects (thalassemia) before birth rather than keep trying to treat the condition after birth.
A Global Healthcare Event
World Thalassemia Day is celebrated globally on May 8th to raise awareness about thalassemia among the public and policymakers, apart from supporting and strengthening the morale of the victims who have battled for years with this fatal disease. The day is marked by many local and international organisations, patient associations, public authorities, and healthcare professionals who come together to promote the importance of prenatal screening, counselling, prevention, management, or treatment of thalassemia in a patient-centred manner.
Opportunistic Platforms
On this day, various private and governmental organisations carry out public education and healthcare campaigns for pregnant women, including genetic screening, counselling, and prenatal diagnosis. These campaigns can help in preventing thalassemia and other genetic disorders. Organisations can also plan or implement new strategies and policies for thalassemia victims, including free blood transfusions or providing financial assistance.
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Thalassemia is a genetic disorder that requires attention, especially in countries where there is a high prevalence of consanguineous marriages. World Thalassemia Day provides a platform to come together to raise awareness about this disease and to implement measures to prevent and manage it. Public awareness and education about thalassemia are crucial in reducing its burden, and early diagnosis can help in preventing complications and improving the quality of life of thalassemia patients.