BENGALURU: After consulting a leading gynaecologist in India for primary infertility, a non-consanguineous couple, Amit & Akhila were suspected of having Beta Thalassaemia trait and were advised a genetic testing. The couple were then tested for mutations in the HBB gene. This gene is responsible for the synthesis of the beta-globin protein, which is a subunit of haemoglobin. Both husband and wife were found to be having the mutations, which causes beta Thalassaemia.
Thalassaemia is a genetic blood disorder characterised as abnormal or inadequate amount of haemoglobin due to certain mutations in the gene. Most often, a Thalassaemia child will show symptoms like fatigue, weakness, slow growth, poor appetite and anaemia. The treatment lies in blood transfusion, which is both an emotional and financial burden on the family.
As per reports, on an average, each year over 10,000 children are born with Thalassaemia and three to four per cent carriers among the population. Hence, the need of the hour is the awareness of a comprehensive genetic testing for both parents. There are primarily two types of Thalassaemia, which are caused due to mutations in the hemoglobin molecules -Alpha globin and Beta-globin.
Alpha Thalassaemia is characterised when an individua lacks control over the production of his alpha globins, and Beta Thalassaemia over production of beta globins.On a much simpler note, it significantly depletes the production of haemoglobin that is responsible for transmitting the oxygen (by the means of RBC) throughout the body. Babies with Thalassaemia Major often seem healthy immediately after birth, but start to develop symptoms within the first two years of life. This condition causes severe symptoms with life-threatening anaemia that requires regular blood transfusions. Thalassaemia minor, on other hand, occurs when one of the globin chains is mutated.
People with this condition typically have very mild symptoms and require no treatment, but they can pass the disease on to their children.Experts stress upon the need for a pre-natal testing and carrier screening for couples, that will help identify the mutations which is key to prevent Thalassaemia cases in India. With the advancements in technology, it has become easier for patients to undertake a genetic test. The Next Generation sequencing has paved way for quicker testing of the genes and provide insights, which were otherwise difficult to obtain.
Further, this aids in providing accurate diagnosis of the diseases. Additionally, a pre-implantation genetic diagnosis (PGD) for couples undergoing IVF (in-vitro fertilisation) and are at risk of having children with
Thalassaemia can turn out to be insightful.
This coupled with awareness about genetic testing; it will enable an early diagnosis and help in deciding the course of treatment and management. The recent draft policy on compulsory genetic screening for all women to prevent inherited (genetic) disorders, focusing on hemoglobinopathies has also helped raise the necessary awareness on genetic disorders. It suggests that if a woman is identified as a carrier, the husband will be screened. If both parents are found to be carriers, prenatal diagnosis has to be offered to ensure that the baby is not affected with serious hemoglobinopathy.
While the policy is drafted, it is evident that the implementation has not started yet. There can me many operational reasons, but once started, it will be a big leap in the direction of curbing hemoglobinopathies in India. The next step is to motivate couples and people with a family history of diseases to undergo a genetic test. The author is the COO, MedGenome Labs
It is recommended that you get yourself diagnosed at the initial stage to avoid the severity of
the disease. People with weak immune system are suggested to go for regular check-ups.