Causes, Symptoms, and Management

Thalassaemia is a group of inherited blood disorders that affect the production of haemoglobin, the protein in red blood cells responsible for carrying oxygen throughout the body. People with thalassaemia produce either fewer or abnormal haemoglobin molecules, leading to anaemia—a condition marked by fatigue, weakness, and pallor.

Types of Thalassaemia

Thalassaemia is generally classified into two main types based on the haemoglobin chains affected:

• Alpha Thalassaemia: Involves deletions or mutations in genes responsible for alpha-globin production. The severity varies depending on the number of affected genes.
• Beta Thalassaemia: Involves mutations in the beta-globin gene. The most severe form is Beta Thalassaemia Major, while milder forms include Beta Thalassaemia Intermedia and Thalassaemia Minor (Trait).

Symptoms and Complications

Symptoms often begin a few months after birth in severe cases. They include:

• Severe anaemia: fatigue, paleness, shortness of breath, and irregular heartbeat
• Jaundice (yellowing of the skin and eyes)
• Delayed growth and puberty
• Bone deformities, especially in the face
• Weak and fragile bones (osteoporosis)
• Enlarged spleen and liver
• Increased risk of infections
• Iron overload due to frequent blood transfusions, leading to heart disease, liver cirrhosis, and hormonal imbalances

Causes and Inheritance

Thalassaemia is caused by mutations in the genes responsible for haemoglobin production. It is inherited in an autosomal recessive pattern:

• A child inherits one faulty gene from each parent to develop thalassaemia major
• Carriers (thalassaemia trait) inherit one faulty gene and typically do not have symptoms but can pass the condition to their children

Diagnosis and Screening

Thalassaemia is often detected during pregnancy or early infancy through:

• Prenatal screening: Offered to pregnant women to assess the risk of passing on the condition
• Newborn screening: Heel prick test to detect serious conditions shortly after birth
• Blood tests: Complete blood count and haemoglobin electrophoresis to detect abnormalities

Anyone can request a blood test to determine if they carry the thalassaemia gene, especially important if there is a family history or ethnic background associated with higher risk.

Treatment Options

There is no universal cure for thalassaemia, but the condition can be managed with ongoing treatment:

• Regular blood transfusions: Every 3 to 4 weeks for thalassaemia major patients to manage anaemia
• Chelation therapy: Medications to remove excess iron from the body
• Bone marrow or stem cell transplant: The only potential cure but limited due to donor compatibility and procedural risks
• Management of complications: Includes hormone therapy for growth delays, gallbladder surgery for gallstones, and medications to treat osteoporosis

Living with Thalassaemia

With proper care and treatment, many people with Thalassaemia can live into adulthood and enjoy a good quality of life. A healthy lifestyle is crucial:

• Maintain a balanced diet and stay physically active
• Avoid smoking
• Ensure up-to-date vaccinations and regular medical check-ups

Reproductive Considerations

Couples with a history or risk of thalassaemia should seek genetic counselling before starting a family. Options include:

• Partner testing
• Prenatal diagnosis
• Preimplantation genetic testing (PGT-M) through IVF

Conclusion

Thalassaemia is a lifelong but manageable condition with the right medical support, regular monitoring, and patient education. Early detection and treatment significantly improve outcomes. Public awareness and genetic screening are key to reducing the incidence of severe forms of this inherited disorder.