Thalassaemia in Children - Screening, Prevention, and Treatment

Thalassaemia is one of the most common inherited hemoglobinopathies and affects thousands of children each year throughout the world. For parents, the diagnosis of thalassaemia can be an appalling experience. However, improvements in screening, treatment and supportive care have done much to improve the prognosis and quality of life of affected children.
Knowledge of the condition and need for early screening and treatment options can help families to make choices and give their child the best care possible.

What Is Thalassaemia? 

Thalassaemia is an inherited blood disorder in which the body is unable to produce normal hemoglobin pattern thereby resulting in abnormal and low hemoglobin levels. Haemoglobin is the protein in red blood cells that carries oxygen around the body. The defect means that red blood cells are destroyed more quickly than normal leading to anaemia. The seriousness depends on the type of thalassaemia that is inherited.

The two main types are:

Alpha Thalassaemia

This occurs when there is a defect in the genes responsible for producing alpha globin chains.

Beta Thalassaemia

This occurs when there is a defect in the genes responsible for producing beta globin chains. Beta thalassaemia is more commonly encountered in the clinical practice.

What Causes Thalassaemia?

Thalassaemia is passed on to children by their parents’ genes. Thalassaemia occurs in a child when they inherit abnormal genes for haemoglobin from one or both parents.

Parents who are carriers of the thalassaemia may have no symptoms, but they can pass the condition on to their children.

That is why screening carriers is important, for prevention.

What Are the Symptoms of Thalassaemia in Children?

Symptoms vary depending on the severity of the disease.The major types  are Thalassemia major ,Thalassemia intermediate and Thalassemia trait, and accordingly they are transfusion dependent/ independent variants. 

Signs and symptoms may be: 

• Pale skin.
• Fatigue or weakness.
• Feeding problems in infants.
• Development and growth are slower.
• Difficulty breathing.
• Irritability. 
• Enlarged spleen.
• Recurrent infections.
• Yellowing of the skin (jaundice).

Symptoms of severe forms of Thalassemia are usually evident in the first two years of life.

Importance of Early Screening

Early diagnosis aids for early treatment and prevention of complications associated with severe anemia. 

Newborn and Early Childhood Screening 

Newborn and early childhood blood screening tests are able to detect anemia and abnormal hemoglobin patterns. 

Common screening tests include:

• Complete Blood Count (CBC).
• Peripheral blood film.
• Hemoglobin electrophoresis.
• High-performance liquid chromatography (HPLC).
• Genetic testing when indicated.

If caught early, the doctor can begin to monitor and treat it before complications occur.

Can Thalassaemia Be Prevented?

Thalassaemia is a genetic disorder and cannot be prevented once conception has taken place. Awareness and screening can, however, often prevent affected children being born.

Premarital and Preconception Testing

Carrier screening before marriage or pregnancy is useful in identifying couples at risk of having a child with thalassaemia.

Genetic counselling

For families where both parents are carriers, genetic counselling can provide information about their risks and reproductive options.

Prenatal Diagnosis

Tests can be done during pregnancy to find out if the foetus has inherited thalassaemia.

In many countries, birth of children with severe thalassaemia has been greatly reduced by public education and screening of the population.

How Is Thalassaemia Treated?

Treatment depends on severity of the condition.

Regular Blood Transfusions

Children with thalassemia major require lifelong blood transfusions to maintain normal levels of hemoglobin and support normal growth.

Iron Chelation Treatment

Too much iron in the body occurs as   a result of having multiple blood transfusions.

Iron chelating medicines help to remove the excess iron and to protect organs like the heart and the liver from damage.

Nutritional Support

Proper nutrition is an essential component of the comprehensive management of children with thalassaemia.

A pediatric hematologist might recommend a balanced diet, folic acid supplementation and monitoring of vitamin and mineral levels.

Monitoring and Supportive Management

Regular follow-up allows for monitoring of growth and development, heart health, liver function, bone health and endocrine function.

The long-term complications can be better managed  with comprehensive care.

Bone Marrow / Stem Cell Transplantation

Hematopoietic stem cell transplantation (HSCT), or bone marrow transplantation, is the  potential cure for selected children.

Eligibility is based on several factors including severity of disease and donor availability.

Living with Thalassaemia

With appropriate treatment and medical care, many children with thalassaemia can go to school, participate in everyday activities and have a good quality of life. Parents play an important role by staying on top of appointments and helping their child stick to the recommended treatment. They can also help their child to eat a healthy and nutritious diet. Psychological and emotional support all throughout is equally important. Children with thalassaemia can lead active and full lives with early diagnosis and appropriate treatment.

Conclusion

Thalassemia is a lifelong genetic blood disorder but timely screening, preventive strategies and advances in treatment have transformed the outcomes for affected children. Early diagnosis, routine surveillance, blood transfusions, iron chelation therapy and specialized pediatric hematology care can help children to live healthier and more fulfilling lives. Awareness, carrier screening and genetic counselling is a key tool in decreasing the burden of thalassemia in the future generations.

Why Choose Ankura?

Our Pediatric Hematology and Oncology specialists at Ankura Hospital, offer comprehensive care for children with blood disorders including thalassaemia, anemia and bleeding disorders and childhood cancers. Our multi-disciplinary team is focused on early diagnosis, personalized treatment plans, advanced transfusion support, long-term monitoring and family-centered care. At Ankura Hospital we combine evidence based medical knowledge with compassionate care to ensure children reach their full potential. Equipped with world class diagnostic facilities, experienced specialists and a child friendly environment, Ankura Hospital is committed to delivering world class paediatric healthcare to every child and family.