​Thalassemia


Thalassemia is an inherited blood disorder in which the body produces an abnormal form of hemoglobin, leading to excessive destruction of red blood cells and resulting in anaemia. The condition is classified into two main types: alpha thalassemia and beta thalassemia, depending on which part of the hemoglobin molecule is affected. 

Thalassemia can range from mild to severe, with severe cases requiring lifelong medical management, including regular blood transfusions and medication. Early diagnosis and appropriate treatment can help improve quality of life and prevent complications.​

Symptoms of thalassemia depend on the severity of the condition and may include:

  • Fatigue and Weakness: Due to decreased oxygen-carrying capacity of the blood.
  • Pale or Yellowish Skin (Jaundice): A result of rapid red blood cell breakdown.
  • Delayed Growth and Development: Particularly in children with severe forms.
  • Abdominal Swelling: Due to an enlarged spleen.
  • Dark-Colored Urine: Caused by the breakdown of red blood cells.
  • Skeletal Abnormalities: Bone deformities, especially in the face.

Mild forms of thalassemia may present with minimal or no symptoms, while severe cases can lead to life-threatening anaemia.​

Consult our Paediatrics Oncology experts if you or your child experience:

  • Persistent fatigue or weakness.
  • Unexplained pale or yellowish skin.
  • Slow growth or developmental delays.
  • Symptoms of anaemia, such as dizziness and shortness of breath.
Early diagnosis through routine blood tests can help manage the condition effectively.​
Your time with your doctor may be limited, so make sure to prepare for your visit beforehand. Here are some tips to help get you started.​

Diagnosing thalassemia involves a variety of tests, including:

  • Complete Blood Count (CBC): Measures red blood cells, hemoglobin levels, and size of red blood cells.
  • Hemoglobin Electrophoresis: Identifies abnormal hemoglobin types.
  • Genetic Testing: Detects mutations causing thalassemia.
  • Prenatal Testing: Chorionic villus sampling (CVS) or amniocentesis to determine if the fetus has thalassemia.​

Treatment for thalassemia depends on its severity and may include:

  • Blood Transfusions: Regular transfusions to maintain healthy hemoglobin levels.
  • Iron Chelation Therapy: Medications to remove excess iron resulting from frequent transfusions.
  • Folic Acid Supplements: To support red blood cell production.
  • Bone Marrow Transplant: A potential cure for severe cases, often from a compatible sibling donor.
  • Gene Therapy: An experimental treatment targeting the genetic mutation causing thalassemia.

Ongoing medical management is essential to prevent complications such as heart disease, liver damage, and infections.​

The Aga Khan University Hospital offers various support services to help with managing or recovering from the disease or condition. These include but are not limited to nutrition, physiotherapy, rehabilitation, specialised clinics and some patient support groups. Your doctor or nurse will advise you accordingly.

The Aga Khan University Hospital offers financial assistance to those who are in need and fulfil the eligibility criteria. For further information, you can contact the Patient Welfare Department. You can find the contact number of the Patient Welfare Department in the 'Numbers' section on the website homepage.

The financial counselling staff is available during office hours, at the main PBSD (Patient Business Services Department), to answer your financial queries on treatment costs and authorise admissions on partial deposit as per hospital policies. The financial counsellor in the emergency room is open 24/7. You can find the contact number of the Patient Business Services in the 'Numbers' section on the website homepage.​

Your doctor or nurse will provide specific instructions regarding any prescribed medications. It is essential to follow their guidance carefully. Self-prescribing or altering medication without professional advice can be harmful. Inform your healthcare provider of any past adverse reactions to medications.

If you experience symptoms of drug poisoning, overdose, or a severe reaction, contact the Pharmacy Services at The Aga Khan University Hospital immediately. The contact number is listed in the 'Numbers' section on the hospital's homepage.​
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The information provided on our website is for educational purposes and not intended to be a substitute for medical advice, diagnosis or treatment. You should always seek the advice of your doctor or other healthcare professional provider.