India has a high incidence of Thalassemic population, contributing to 10% of the world’s Thalassemics. Despite the high prevalence, Thalassemia draws little attention, unless a family member is affected or a couple decides to have a child. Thalassemia, simply put, is a condition that affects the red blood cells due to defective production of haemoglobin. These cells are responsible for carrying oxygen to all organs of the body. The person affected with this condition has too few red blood cells causing anaemia.
Thalassemia dates back to 1925, when American pediatricians Cooley and Lee described a disease, named Cooley’s anaemia, in children of Italian and Greek immigrants. The word ‘Thalassemia’ is a Greek term derived from thalessa, which means “the sea”, and emia, which means “related to blood” and it was so coined because it was first described in people of Mediterranean ethnicities. However, at present the geographic distribution encompasses the Middle East, Central Asia, Indian subcontinent and the Far East.
Thalassemia is a genetic disorder, hence does not have a cure. Unfortunately this is a lifelong condition for the affected person. But all is not bad as Thalassemia occurs in two forms, a milder version called Thalassemia Minor and a serious version called Thalassemia Major. Person affected with Thalassemia minor is only considered a carrier without showing any ill effects. But person affected with Thalassemia Major will suffer from severe anemia requiring regular blood transfusions.
Thalassemia Minor is inherited if the abnormal gene comes from only one parent, i.e the mother or the Father. Thalassemia Major is inherited if the abnormal gene comes from both the mother and the father. Thus, it becomes important for even apparently normal expectant couples to check for Thalassemia as they might be Thalassemia Minor (hence a carrier) but would have remained undetected. For couples with Thalassemia Minor, there is 25% (1 in 4) chance that their baby might be affected with Thalassemia Major.
Accurate detection of Thalassemia early in the pregnancy is essential
It is wise for every couple planning to have a child to understand the risks posed by Thalassemia. A Fetal medicine expert is the right person to reach out to for counselling for Thalassemia before or during pregnancy. A simple blood test can show if you have Thalassemia and what type of Thalassemia. If need arises, even the fetus can be tested for this genetic disorder by the Fetal Medicine Expert through Chorionic Villus Sampling. Accurate detection of Thalassemia early in the pregnancy can lead to more informed decisions on continuing with the pregnancy. This will contribute to a better quality of life for the parents and the newborn.
By: Dr. Shreyasi Sharma: MBBS, MD (Obstetrics & Gynaecology), Fellowship in Fetal Medicine
Also read: The Triple Test - A Must For Every Pregnancy