May 8 is observed as World Thalassemia Day across the globe every year. This time doctors have aimed to encourage blood donation and spread increased awareness to women carrying the gene to protect their unborn child.
Thalassemia, refers to a spectrum of genetic blood disorders characterised by reduction in the synthesis or absence of haemoglobin in the body. People with this disease produce lesser amounts of healthy haemoglobin throughout their life, and their bone marrow could even stop producing healthy red blood cells at a certain point in their life. This inherited disorder can range from being mild to severe in nature, depending upon the type and manifestation of the symptoms associated with the disorder.
According to a WHO report, more than 90 percent patients with thalassaemia in western countries lead a normal life, whereas in India, roughly half of all patients die before reaching adulthood.
Understanding the implications of thalassemia on pregnancy is the need of the hour, say experts Clinical evidence suggests that if you or your partner carries the trait (alpha or beta) for thalassemia, there is a high risk that your baby may inherit the disease. Additionally, stress and low immunity levels during pregnancy can make the symptoms of thalassemia worse in most women, leading to a series of other physical and mental health implications. "Contrary to existing myths in our society, thalassemia is never acquired from contact or from the environment.
Thalassemia is inherited, meaning that at least one of your parents must be a carrier of the disease. It's caused by either a genetic mutation or a deletion of certain key gene fragments. The disease tends to run through families and is autosomal recessive disorder. Genetic studies have shown that even if only one parent has got the traits of thalassemia minor, there are up to 50% chance of having a child with thalassemia minor. Again, if both parents are thalassaemia minor carriers, the chance of having a child with thalassaemia major can be as much as up to 25%," said Dr. Anil Kumar Dhar, Senior Consultant, Oncologist, Venkateshwar Hospital. Being informed about the disorder is not a guarantee on preventive or corrective measures for the unborn child.
Things like pre-natal counseling and tests in understanding the possible complications will help in this matter. By getting detected early, pregnant women and their partners can take important decisions regarding pregnancy. Dr. Amitabha Ghosh, Columbia Asia Hospital, Gurgaon shared,"Both thalassemia major and minor can now be diagnosed as well as differentiated not only by conventional clinical methods and blood testing, but also with specialized molecular tests which permit accurate diagnosis, even before the baby is born. If you are already pregnant and both partners are having thalassemia minor, a prenatal diagnostic test is always recommended to find out whether the unborn baby has thalassemia major. Babies should be tested at birth for such genetic problems, and all people (and not only mothers) planning to have a child must get tested to see if they carry thalassemia traits. Ideally, thalassemia should also be checked before marriage to ensure a better future for both partners." Depending on the type and stage of thalassaemia, women may be referred to a specialist team throughout the pregnancy period.
"Thalassaemia is genetic disorder in which there is a defect in the oxygen carrying capacity of the Red Blood Cells. If it is minor in nature, it may not result in any major complications. When the defects are more severe, it may impair the pregnancy from happening or lead too abortions or it may result in severe defects in the new born baby. The mother's folic acid deficiency results in neurological problems in baby. Female patients with low haemoglobin should be evaluated for iron deficiency anaemia and thalassaemia. If she is diagnosed with thalassaemia, her husband should also be checked for it", noted Dr Rajesh Kumar, Senior Consultant, Internal Medicine, Paras Hospitals, Gurgaon. Globally, approximately 15 million people suffer from thalassemic disorders every year.
In India, it has been estimated that 10,000-12,000 children are diagnosed with this disease annually. On an average, one out of every 25 Indians is a carrier of thalassemia. Owing to the ignorance and lack of proper awareness, many people in India do not opt for diagnosis on time and hence ends up transferring the faulty genes to their children, research suggests. Of all the people, 50 percent die before the age of 20 due to poverty and lack of treatment. Reportedly, about four million Indians are thalassemia carriers and over 1,00,000 patients. Iron overload is a common complication of thalassaemia syndromes which could lead per se to the development of organ damage and increased mortality. Figures show that six out of 100 Indians are carriers of the mutated thalassaemia gene.
If a child inherits one thalassemia gene, he is referred as a carrier - many of whom can lead a completely normal and healthy life. But, if the child inherits two thalassemia genes - one from each parent - he will develop the disease. The person needs to be supplemented with RBC transfusions every two to three weeks to survive and stay healthy, depending on the severity of the condition.