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 complexityof 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 awarenessisn’t given as much of importance as for the other health conditions such as cancer or diabetes. At present 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
Thalassemia 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
If situations where 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 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 thalassemia are alpha thalassemia and beta thalassemia. 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 are 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. Supposedly, over four million Indians are thalassemia carriers and more than 1, 00,000 patients.
4. Symptoms of thalassaemia
Some of the common symptoms of the condition includes 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 thalassemia minor.
- 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.
By: Dr. Rajni Khajuria