Thalassemia is an umbrella term for inherited blood disorders that affect the body's ability to produce haemoglobin. Thalassemia affects around 7% of the global population. Hence, it's essential to raise awareness and honour World Thalassemia Day. This global event aims to educate the public about Thalassemia, promote early diagnosis, and encourage research and treatment advances.
Thalassemia occurs when the genes responsible for haemoglobin production are mutated or missing, causing the red blood cells to become fragile and break down. This can result in anaemia, fatigue, and other complications such as an enlarged spleen, liver, and heart. Although Thalassemia primarily affects populations from Mediterranean, Middle Eastern, South Asian, and African countries, it is becoming more common in other regions due to migration.
Types of Thalassemia
There are 2 main types of Thalassemia, each with varying degrees of severity:
Alpha Thalassemia: Alpha Thalassemia causes a reduced production of alpha-globin chains.
Beta Thalassemia: Beta Thalassemia affects the production of beta-globin chains.
Importance of Diagnosis
Early diagnosis is crucial for managing Thalassemia effectively. Screening tests can detect the disorder even before a child is born, allowing for prompt treatment and intervention. Timely diagnosis can significantly improve the quality of life for individuals with Thalassemia and prevent complications such as organ damage and heart failure.
Three primary treatments help manage Thalassemia:
Blood Transfusions: Regular blood transfusions are necessary for individuals with severe Thalassemia. They can help maintain healthy haemoglobin levels and reduce symptoms. However, frequent transfusions can lead to iron overload, which may cause organ damage.
Chelation Therapy: Chelation therapy helps remove excess iron from the body and manage iron overload. There are different types of chelating agents, including oral and injectable medications. This therapy is often prescribed alongside blood transfusions to minimise complications.
Bone Marrow Transplant: This may be a potential cure for some patients with Thalassemia. Candidates for this procedure are typically those with a compatible donor, usually a sibling. However, the transplant carries risks and may not be suitable for everyone.
Primary Prevention of Thalassemia
Several strategies help prevent Thalassemia:
Prenatal Diagnosis: Screening tests during pregnancy can identify whether a foetus has Thalassemia, allowing for early intervention and treatment options. These tests include amniocentesis and chorionic villus sampling.
Health Awareness and Education: Raising awareness about Thalassemia is crucial in promoting understanding and empathy for those affected by the disorder. Educating the public about the importance of early diagnosis and treatment can significantly improve the lives of individuals with Thalassemia.
Genetic Counselling and Testing: Couples planning to have children can undergo genetic counselling and testing to determine their carrier status for Thalassemia. If both partners are carriers, they have a 25% chance of having a child with the severe form of the disorder. By identifying their carrier status, couples can make informed decisions about family planning and consider options such as in vitro fertilisation with preimplantation genetic diagnosis (IVF-PGD) to reduce the risk of having a child with Thalassemia.
Thalassemia is a complex genetic disorder that affects millions of people worldwide. Raising awareness about this condition and promoting early diagnosis, treatment, and prevention strategies are vital to improving the lives of those affected by Thalassemia. As we honour World Thalassemia Day, let us commit to spreading knowledge, fostering empathy, and supporting research to advance our understanding and management of this disorder.
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