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What is Thalassemia?

Best Thalassemia Treatment Hospital in Delhi NCR

Thalassemia is an inherited blood disorder affecting the hemoglobin gene . It is a hemoglobinopathy where there is decreased production of alpha or beta hemoglobin leading to breakdown of red blood cells and anemia. Hemoglobin is an oxygen carrying component of the red blood cells. Hemoglobin has two proteins- alpha and beta. So in Thalassemia, where these alpha or beta proteins are not produced enough, red blood cells are not stable and they break down easily causing anemia. So in Thalassemia the affected individual will have anemia at an early age and have less oxygen in the blood and tissues. Thalassemia Doctor in Delhi.

As thalassemia is an inherited disease, at least one of the parents must be a carrier. It is caused by a either a genetic mutation (change in the gene) or deletion of the specific key gene.

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Types of Thalassemia:

There are two types Thalassemia depending on the involvement of affected gene.

  • Alpha Thalassemia is caused by deletion of alpha globin gene.
  • Beta Thalassemia is caused by genetic mutation in beta globin gene.

There are two types of Thalassemia depending on the number of mutated genes and severity.

  • Thalassemia minor: If one abnormal gene is inherited from one parent then its called Thalassemia minor, mild type. In this type, no treatment is required but the affected individual will be a carrier of that abnormal gene.
  • Thalassemia major: But if the child inherits two abnormal genes, one from each parent, then its called Thalassemia major, a severe type of anemia, where the child can present with anemia after 6 months of age. This type needs treatment. The child will have deformities of the bones, particularly in the face, , delayed growth and development, excessive tiredness and fatigue, and yellow or pale skin and yellowish discoloration of eyes.
    Thalassemia does not affect everyone equally. Signs and symptoms of the disorder may also appear later in childhood or adolescence depending on the severity of the disease.

What is the cause for this disease?

As described, it is an inherited disorder. It is inherited as autosomal recessive pattern, that means both the parents have to be a carrier of the abnormal gene which is passed on to the affected child. There are more than 200 genetic mutations which are identified as a cause for this disease. .

How to Diagnose Thalassemia?

Any child presenting with severe anemia at an early age, should be investigated to rule out thalassemia major. On Physical Examination, child will look pale, there may be yellowish discoloration of the eyes, spleen will be enlarged.

Laboratory tests:

  • Complete blood count (CBC): it is an important and simple blood test which will give us information about anemia and low MCV.
  • Peripheral smear: The second important blood test in which the blood sample is examined by pathologist under microscope and gives information about the type of anemia and abnormal shapes of red blood cells.
  • HPLC: this test will confirm the type of thalassemia. It is also important to do the parents HPLC tests.
  • Mutation analysis is also an important test to know the genetic abnormality.

Treatment for Thalassemia major:

There are two main types of treatment –

  • 1. Regular blood transfusion along with iron chelating agents. When a child receives regular blood transfusions almost every 3-4 weeks, then the iron starts getting deposited in various organs of the body, like liver, heart, pancreas etc. which can damage these organs. Therefore, its important to take iron chelating medicines along with transfusions. This is not a curative treatment option, here we are just correcting the anemia.
  • 2. Bone marrow transplantation: It is a curative treatment option where the patient’s bone marrow cells are replaced by the stem cells of a suitable donor. This eliminates the need the regular transfusion.
  • 3. Gene Therapy: It’s a latest advancement in the treatment of thalassemia patients but still under research work.

Till date the best treatment option for Thalassemia major patient is Bone marrow transplantation. Results are much better if it is done at an early age, specially before 7 years of age

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