Dr. Suraj Chiraniya –

Thalassemia is one of the deadliest diseases. It is the most common inherited genetic blood disorderthat affects the body’s ability to produce normal haemoglobin. People with thalassemia produce less healthy haemoglobin proteinsand their bone marrow produces fewer healthy red blood cells. In India about 10,000 children are born every year with thalassemia.

There are different types of thalassemia and the type of thalassemia a person may have depends upon the number of defective genes they have inherited. There are mainly 2 types of thalassemia:

  • Beta-thalassemia – Major and Minor Subtype
  • Alpha thalassemia – haemoglobin H and fetal hydrops subtypes.


Thalassemia Major is found in children who receive mutated genes from their parents. Inherited child will be unable to produce the necessary haemoglobin, which eventually leads to chronic fatigue.People with thalassemia trait in one gene are Thalassemia Minor. The confirmation of Thalassemia Minor can happen through a specific blood test known as haemoglobin electrophoresis.

In transfusion-dependent beta thalassemia symptoms begin after a baby is few months old. In othersit can take few years.The symptoms can include:

  • Pale skin
  • Acting cranky or upset
  • Not growing as much as expected
  • Swelling of the belly
  • White part of the eyes turning yellow
  • Facial bone or skull being wider than usual
  • Dark urine
  • Weakness
  • Fatigue


Complications of Thalassemia:

Iron overload:  Patients suffering from thalassemia can accumulate too much iron content in their bodies, either from the disease or from frequent blood transfusions. Excess iron may result in damage to the heart, liver and endocrine system.

Infection: There are high chances of an increased risk of infection in thalasemmics particularly if the spleen is removed.

Heart related issues: Associated with severe thalassemia are congestive heart failure and abnormal heart rhythms in patients.

Treatment option includes blood transfusion andironchelation versustransplantation for patients suffering from thalassemia.With a mild case, one might feel tired and not require treatment. But for serious cases regular blood transfusions are required. How often one needs transfusions may vary from person to person.

  1. Transfusion and chelationtherapy

Regular transfusion and chelation therapy have helped inimproving survivalandquality of lifeofpatientswiththalassemiaandhave shiftedapreviouslyfataldiseasewithearlydeathtochronic disease that is compatible with prolonged survival. Foreffectiveness,treatmentshouldstartasearlyas thefirstfewmonthsafterbirthandshouldcontinueforlife or until the patient undergoes transplantation.

  1. Allogeneichematopoieticstemcelltransplantation (HSCT):

Therealisticand clinicallyrationalecurativemodalityavailabletotreatthalassemiamajor is Allogeneicstemcelltransplantation. Recent developments have advanced the technique from both siblings and alternate donors other thanfullymatchedsiblingswithdifferentintensitiesofconditioning and graft engineering for global use.

There are multipleadvantagesofstemcelltransplantationwhich includes

·     High cure rate with the current advances in transplant engineering and conditioning regimens.

  • Lower cost and cost-effectiveness
  • ImprovedimpactonQuality of Lifeforbothpatientsandfamilies


Here are the myths that are important to be busted

Myth:Thalassemia carriers should not get married

Fact: People with thalassemia can get married to anyone. The couples must get their DNA testing done to see which mutation they have.However, if a thalassemia carrier marries a carrier, then at the time of 8-10 weeks of pregnancy, the expecting mother should go forantenatal diagnosis of thalassemia.


Myth: If two thalassemia carriers marry each other, they will have a thalassemia major child

Fact: One can also go for the pre-implantation genetic testing to select the embryo that does not have the thalassemia gene along with a check for aneuploidy. This would ensure a non-thalassemia major birth despite both being thalassemia carriers.


Myth:There is no treatment for thalassemia major

Fact:If a thalassemia child is transfused with a quality filtered blood regularly, the process can help the patient to get through to adulthood. Also, one must look at levels of ferritin for iron overload and oral iron chelation agent. Ensure checking for early organ damage by performing MRI of the heart, pancreas and liver to get the best results for a proper growth. The other options available for treatment are bone marrow transplant and gene therapy.


Thalassemiamajorpatientsshouldbeofferedatrans-plantation before they develop end organ damageand iron overloadrelated complications; the earlier the better.Thalassemia is certainly a dangerous disease, if detected at an early stage can be managed successfully with the help of timely preventive health check-up.

About the Author

Dr. Suraj Chiraniya

Author & Consultant

Dr. Suraj Chiraniya, Hemato Oncology and BMT, HCG Cancer Centre Mumbai

Disclaimer : The views expressed by the author in this feature are entirely her / his own and do not necessarily reflect the views of INVC NEWS.




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