Thalassemia


Thalassemia is an inherited blood disorder in which a child has a low haemoglobin because of reduced or absent production of certain proteins. Due to low haemoglobin or anemia, the overall oxygen carrying capacity is reduced which leads to certain signs and symptoms.

Thalassemia is broadly divided into two types: Alpha and Beta. In Pakistan, beta thalassemia is the predominant type which is further classified into Thalassemia minor and Thalassemia major.

Thalassemia minor, as the name indicates, is a carrier state and the person is usually asymptomatic. In this form of the disease, it may stay undetected for many years or even throughout life.  Overall, approximately 6% of Pakistani population is Thalassemia minor.

On the other hand, beta thalassemia major is a more severe form and these patients need regular blood transfusion for survival

Signs and symptoms of thalassemia include:

  • Fatigue
  • Yellowish or pale skin (jaundice)
  • Dark urine
  • Facial bone deformities
  • Abdominal swelling
  • Weakness
  • Slow growth

Most of the babies who inherit thalassemia major may show signs and symptoms of the disease in first few months of life. ​

If you are experiencing any of the symptoms described above in your baby, immediately consult our expert Haematologists at The Aga Khan University Hospital.

Thalassemia major is diagnosed by blood tests. Your doctor will take your blood sample to conduct the specific tests:

  • Complete Blood Count (CBC): the test measures the amount of haemoglobin in the body and also examines the composition of the blood cells. If you have thalassemia, the CBC will reveal fewer healthy red blood cells and less haemoglobin than normal in your blood. The blood test may also show the shape of the red blood cells to be smaller. Blood film examination of a classic case of Beta Thalassemia major is diagnostic and for the confirmation haemoglobin studies are performed​.

Prevention of Thalassemia

Once thalassemia is diagnosed in the family, our haematologist do the genetic counselling.  

If you're expecting a baby and you and your spouse are thalassemia carriers, you may want to consider prenatal testing. This is testing done on the foetus to determine if the has thalassemia before it is born. This is done by the following test:

  • Chorionic villus sampling: this test is usually done around the 11th week of pregnancy and involves removing a tiny piece of the placenta for evaluation.​


After assessing your case, your doctor will prescribe the best course of treatment for you.

Treatments for Beta thalassemia major include:

  • Blood transfusions: during this procedure, blood will be given to you intravenously. The type of thalassemia you have will determine the frequency of the blood transfusions. More-severe forms of thalassemia often require frequent blood transfusions, possibly every 3-4 weeks.

If you are receiving blood transfusions you will also be asked to undergo chelation therapy. Chelation therapy is a chemical process in which a synthetic solution is injected into the bloodstream to remove excess iron from the blood. This iron may build-up during the transfusions and can prove to be fatal for body tissues. Oral iron chelators are also available. 

  • Bone marrow transplant is the curative treatment option for this disease. If a patient is young and has a suitable donor, he may be recommended bone marrow transplant. During the treatment, high-dose chemotherapy is given to the patient to eliminate the defective thalassemia-producing cells in the marrow and replace them with healthy donor cells.​

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, specialized 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 'Important 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 treatments' costs and authorize admissions on partial deposit as per hospital policies allow. The financial counsellor in the emergency room is open 24/7. You can find the contact number of the Patient Business Services in the 'Important Numbers' section on the website homepage.​

Your doctor and or nurse will give you specific instructions about the prescribed medication. Please ensure that you take or use the prescribed medicine as advised. It can be dangerous to your health if you self-prescribe. Please inform the doctor or nurse beforehand if you have experienced any adverse reactions to any medications in the past. If you experience any symptoms of drug poisoning, overdose or severe reaction please contact the Pharmacy Service at The Aga Khan University Hospital immediately. You can find the contact number of the Pharmacy Services in the 'Important Numbers' section on the website homepage.