Thalassemia is a genetic blood disorder inherited from one’s parents. The condition causes production of abnormal form or inadequate haemoglobin. Red blood cells have proteins called Haemoglobin, and it carries oxygen. The lesser number of these substances makes one prone to anemia.
There are several types of Thalassemia. In severe cases, complications can include enlargement of spleens, osteoporosis, heart and liver diseases.
Why is it important to celebrate world Thalassemia day?
Every year on May 8 we celebrate world Thalassemia day to spread awareness, to remember those who lost their lives fighting the disease and to acknowledge the ones living with the disease.
This year’s theme is “Universal access to quality thalassaemia healthcare services: Building bridges with and for patient”.
Where is the disorder most prevalent?
It is found all over the world but specifically in the Mediterranean, South Asia, Middle East and African regions in the world.
Around 3.4% of the people are carrier of the Thalassemia and around 7,000 to 10,000 children are born with Thalassemia per year in India. Individuals with the disorder struggle with their daily lives and the treatment involved is not cost-effective. Moreover the psychological stress they are subjected to is also high.
Prevention
Dr. VL Ramprasad, COO, MedGenome Labs, says the most effective approach would be to include genetic screening during pregnancy.
“Recently, the government has proposed a draft policy for screening of pregnant women to prevent inherited disorders such as Thalassemia and Sickle cell anemia. According to the draft policy, for women identified as carriers for Thalassemia, the husbands will be screened and in couples where both the partners are carriers, prenatal diagnosis will be offered to ensure that they have a baby unaffected with a significant hemoglobinopathy.
If both the parents are carriers of Thalassemia, the changes of the child developing it are significantly higher. “In lieu of this, prenatal testing of fetus for Thalassemia becomes pivotal to understanding if the child will be affected with Thalassemia. The next generation sequencing based genetic testing ensures high accuracy of the test report providing the expecting parents a clear information to make an informed choice on available courses of action. While the policy is drafted, it is evident that the implementation has not started yet. There can be many operational reasons, but once started, it will be a big leap in the direction of curbing hemoglobinopathies in India. Additionally, a pre-implantation genetic diagnosis (PGD) for couples undergoing IVF (in-vitro fertilization) and are at risk of having children with thalassemia can turn out to be insightful.”
Treatments
The most common treatment is blood transfusion. Other treatments include iron chelation, surgeries to correct the bone deformities that occur due to the iron overload.
Gene therapy is another emerging treatment for Thalassemia, where they are trying to insert non-defective genes into the bone marrow or reactivating the existing genes. The treatments they go through are painful, a person with Thalassemia on an average has a needle injected for 40000 hours of his/her life.