Thalassaemia

It is caused by genetic mutations passed from parents to children. These mutations affect either the alpha or beta globin chains of hemoglobin, reducing its production.

The two main types are:

Alpha-thalassemia – problems with alpha-globin production.

Beta-thalassemia – problems with beta-globin production.
Each type ranges from mild to severe depending on how many genes are affected.

Symptoms differ by severity but may include:

• Fatigue and weakness
• Pale or yellowish skin
• Poor growth in children
• Bone changes
• Enlarged spleen

Abdominal swelling
Symptoms may appear in infancy, early childhood or later in life for milder cases.

Diagnosis typically includes:

• Blood tests to measure haemoglobin
• Haemoglobin electrophoresis to detect abnormal types
• Genetic testing in some cases
  Healthcare providers may also diagnose it prenatally.

Some complications are due to iron overload from repeated transfusions, such as:

• Heart issues
• Liver disease
• Hormonal imbalances
  Other issues include bone changes, infections, and spleen enlargement.

 Treatment depends on the severity and may include:

• Regular blood transfusions
• Iron chelation therapy to remove excess iron
• Folic acid supplements
• In some severe cases, bone marrow or stem cell transplant