By Dr. Rajni Khajuria

Thalassaemia is genetic disorder associated with blood. It is caused by the lack of or errors in genes in charge for production of haemoglobin, a protein there in the red blood cells. Each red blood cell can contain between 240 and 300 million molecules of haemoglobin.

“The complexity of the disease depends on the mutations involved in the genes, and their interplay. While thalassaemia is a condition that affects millions of individuals across the world, its awareness isn’t given as much of importance as the other health conditions such as cancer or diabetes” says Dr. Rajni Khajuria.

At present according to WHO and other studies, there are over four million individuals from India suffering from the disease, it is high time to spread awareness and take appropriate actions about this disease.

1. Understanding thalassaemia

Thalassaemia is a genetic blood disorder because of which a patient is unable to generate ample Red Blood Cells and needs to be supplemented with RBC transfusions every 2-3 weeks to stay healthy and to survive.

2. Kinds of Thalassaemia 

In situations where one of the parents is a carrier, the child develops thalassaemia minor. People with this disorder usually do not exhibit any symptoms, which makes it complex to identify. It is thus worthwhile to get tested, in case, any of your parents or relatives have some form of a disease.

The other kinds of thalassaemia are alpha thalassemia and beta thalassaemia. In case of alpha thalassaemia, at least one of the alpha globin genes has an abnormality.

In beta thalassaemia, the beta globin genes are affected. Each of the forms has sub-types, which vary in indications and rigorousness.

In case both the parents are a carrier for thalassemia, they will have 25% risk to have a child affected with Thalassemia.

3. Thalassaemia in the country

India ranks on top of the list when it comes to thalassaemia. It has over 10,000 children born with the condition every year.

Of these, 50% do not survive till the age of 20 due to poverty and lack of treatment. Based on, over four million Indians are thalassemia carriers and more than 1,00,000 patients.

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4. Symptoms of Thalassaemia

Some of the common symptoms of the condition include fatigue, weakness, bone deformities, especially in the face, pale appearance or yellow skin, slow growth rates, lowered immunity levels, iron overload, and heart diseases.

5. Tips for Thalassaemia patients

One should pursue universal immunization to prevent exposure from infections. Also, it is recommended to consume food which is less on iron as the patients undergo frequent blood transfusion. Also sticking to a healthy diet and routine exercise helps to battle the disease.

6. How does one Test whether s/he has Thalassaemia?

A simple blood test called Hb electrophoresis / Hb A2 can indicate whether you are a carrier or have a trait of thalassaemia minor.

7. Preventing Thalassemia

One can only prevent thalassemia as it is inherited (passed from parents to children via genes). Nevertheless, simple blood tests can help couples identify the risks of having a child with thalassemia or other genetic disorders.

This test is called Carrier Genetic test (CGT). In cases both partners are identified as carriers of the same genetic mutation, they can seek adequate guidance from their doctors on how can they conceive a healthy baby.

Screenings like Preimplantation Genetic Diagnosis (PGD) can help patients conceive a healthy baby through IVF.

Author Bio:

Dr. Rajni Khajuria is Lab Director at Igenomix and Former Researcher at AIIMS.

Image Credits: Google Images

Sources: This article has been given by an independent source and can also be found on other sites.

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