World Thalassaemia Day: Symptoms, Prevention & Other Facts To Know About The Condition
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Awareness Is Key
Thalassaemia is a blood-related, genetic disorder. It is caused by the lack of genes or errors in genes that are in charge of producting haemoglobin, a protein in red blood cells. Each red blood cell 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 affects millions of individuals across the world, not many people are aware about the condition. According to World Health Organisation, over four million individuals in India are suffering from the disease.
On World Thalassaemia Day, Dr Rajni Khajuria, Lab Director at Igenomix and former researcher at AIIMS, Delhi, shares why it is important to spread awareness about the disease, and take necessary steps.
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Understanding Thalassaemia
Thalassemia is a genetic, blood disorder. In this condition, the patient's body is unable to generate ample red blood cells (RBCs), and needs RBC transfusions every two to three weeks to survive.
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Kinds Of Thalassaemia
If one of the parents is a carrier, the child develops thalassemia minor. People with this disorder usually do not exhibit any symptoms, which makes it difficult to identify the condition. It is thus advisable to get tested the parents or relatives tested.
The other kinds of thalassemia are alpha and beta. In case of alpha thalassemia, at least one of the alpha globin genes has an abnormality. In beta thalassemia, the beta globin genes are affected. Each of the forms has sub-types, which vary in indications and rigorousness.
In case both the parents have thalassemia, there is a 25 per cent change the child will be born with thalassemia.
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Numbers: Thalassaemia In India
India ranks the list when it comes to thalassaemia. Over 10,000 children are born with the condition every year in the country. Of these, 50 per cent do not survive till the age of 20 due to poverty and lack of treatment. Over four million Indians are thalassemia carriers and more than 1, 00,000 are patients.
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Symptoms Of Thalassaemia
The common symptoms of the condition includes fatigue, weakness, bone deformities (especially in the face), pale appearance or yellow skin tone, slow growth rates, lowered immunity levels, iron overload and heart diseases.
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Tips For Thalassaemia Patients
Thalassaemia patients should pursue universal immunisation to prevent exposure from infections.
It is recommended to consume food which don't have high iron content as the patients undergo frequent blood transfusion.
Sticking to a healthy diet and routine exercise will help manage the disease.
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How To Know If You Have Thalassaemia
A simple blood test called Hb electrophoresis or Hb A2 can indicate whether you are a carrier or have a trait of thalassemia minor.
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Preventing Thalassemia
One can only prevent thalassemia as it is inherited (passed from parents to children via genes). 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.
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 such as Preimplantation Genetic Diagnosis can help patients conceive a healthy baby through IVF.
