Haemoglobinopathy is a genetic blood disorder that represents a significant national health burden in India but has received little attention owing to lack of public awareness. A genetic disorder occurs due to irregularity in a person’s gene. In India, among the various genetic disorders, Haemoglobinopathy beta thalassaemia is a major health problem with its incidence varying from 1% to 17% and its estimated carrier frequency varying from 3% to 4%. It is more common in certain communities like the Sindhis, Gujaratis, Punjabis, tribals, Mahars and Bengalis, and also families in which marriages happen between closely-related individuals.
In beta thalassaemia, the production of protein in red blood cells is affected due to abnormal genes. This reduces the formation of healthy haemoglobin in the blood, which leads to the destruction of red blood cells. As it is a genetic disorder, it not only affects a single person but can run from one generation to another in a family when an abnormal gene is passed on from a parent to the child.
Parents can be healthy carriers, meaning they have one copy of the abnormal gene but do not show any symptoms of the disease. However, their child can get one abnormal copy of the gene from each parent and s/he can have mild to severe symptoms depending upon the type of thalassaemia. There is a 25% risk of having an affected child if both the parents are carriers of the disease. There are three types of thalassaemia with different clinical features — Beta thalassaemia minor, Beta thalassaemia intermedia and Beta thalassaemia major.
The child with mild disease has mild anaemia but the child suffering from severe form can have pale skin, irritability, weakness, shortness of breath, slow growth, weak bones, protruding abdomen and facial bone deformity. The child can also have common complications such as heart failure arrhythmias, diabetes, hypothyroidism, hypoparathyroidism, delayed puberty and complications of treatment.
Once a child is diagnosed with thalassaemia, s/he has to take lifelong treatment, which includes regular blood transfusions, medicine for iron overload, management of complication of iron overload and transfusions. However, the definitive treatment for this is stem cell transplantation. Though these measures may increase the life expectancy of the sufferer, complications arise regularly and the annual cost of the treatment too is high. In this context, the prospect of curing this disease by gene therapy holds great potential.
Hence, there is an urgent need to make people aware of this disease. The government and NGOs, through various activities and events, are attempting to spread awareness about this disorder and its treatment options. But owing to the need for long-term therapy, various complications, high cost of treatment, prevention is better than cure.
Change in Approach
There is now an emphasis for shift from treatment to prevention of birth of such children. Prevention of this disease at the national level would be cost-effective too. It could be achieved by educating people about the disease and measures for prevention, which include screening test for high-risk communities for thalassaemia carrier, genetic counselling of the couple who are thalassaemia carriers and testing during early pregnancy to confirm the thalassaemia status of the baby.
Ideally, the screening test among high-risk communities should be done in the young people before marriage. But it’s not practical in our country, especially since in some societies gene abnormality leading to blood disorder is perceived to be corrupting the blood (rakt dosh). They think being thalassaemia carrier renders an individual unfit for marriage. So many parents are not inclined to test their daughters because of the possibility of not being able to marry them off if they are detected with it.
The alternative is screening not just the high-risk couple but every couple who is planning for pregnancy. This carrier testing should be done both after marriage and before pregnancy. If the couple tests positive, then they can undergo genetic testing to know the exact gene abnormality. The thalassaemic status of the baby then can be confirmed by the same genetic test during early pregnancy. If the baby is affected, parents can take the decision of continuing or terminating the pregnancy.
A concerted and joint effort by the government, NGOs, public and healthcare providers is essential to prevent thalassaemia in the country. If one notices symptoms (see infographics) in her/his child or any other child, the family should consult an expert geneticist for further genetic counselling and diagnosis. Efforts of the government, NGOs and healthcare providers will be fruitful only if we all come forward to ‘fight for a better tomorrow in thalassaemia’ together.
(The author is Assistant Professor, Kamineni Institute of Medical Sciences, Narketpally, Nalgonda)