Mumbai doctors say there is a need for Indian couples to go through thalassemia screening and haemoglobin electrophoresis tests, and genetic counselling if needed, as an essential part of fertility and pregnancy planning.
The health experts say that while many couples undergo fertility treatment and IVF procedures, awareness regarding inherited genetic conditions remains limited. Timely screening, counselling, and advanced reproductive technologies can help couples better understand genetic risks and ensure healthier pregnancies.
Every year, World Thalassemia Day is observed on May 8 to create awareness about the blood disorder. While people may know of it, their connection to pregnancy needs to be in the spotlight.
Thalassemia is an inherited blood disorder in which the body is unable to produce healthy hemoglobin, leading to low red blood cell counts and anaemia. It is mainly caused when both parents carry the faulty thalassemia gene and pass it on to their child. The symptoms include weakness, fatigue, pale skin, delayed growth, breathlessness, frequent infections, and an enlarged spleen. If severe forms like thalassemia major are not managed properly, they can lead to complications such as bone deformities, heart problems, liver damage, iron overload, and the need for lifelong blood transfusions.
Many inherited conditions, including thalassemia and other blood disorders, may not show symptoms in carriers, causing couples to remain unaware until complications arise during pregnancy or after childbirth. So, blood tests and genetic evaluations before conception can help identify risks early and allow couples to explore safer reproductive choices,” said Dr Surabhi Siddhartha, Consultant Obstetrician and Gynaecologist at Motherhood Hospital , Kharghar, Navi Mumbai.
Dr Surabhi further said, “Many women come for pregnancy care without awareness about carrier screening, and in some cases, the diagnosis happens only after repeated miscarriages, pregnancy complications, or the birth of a child with a serious genetic disorder. Conditions such as thalassemia can lead to lifelong blood transfusions, growth problems, weakness, organ damage, and emotional as well as financial stress for families. This is why preconception counselling and genetic testing are becoming extremely important today, as simple screening before pregnancy can help couples understand risks early and plan for a healthier future.”
Dr Rita Modi, Senior IVF Consultant at Motherhood Fertility and IVF, Kharghar, Navi Mumbai. aid, “Many couples approach fertility treatment with the hope of conceiving successfully, but very few understand the importance of genetic counselling before pregnancy. Routine thalassemia carrier screening is simple, feasible, and not very expensive. Screening is recommended, especially in couples from endemic regions. Individuals with persistent anemia or abnormal hemoglobin levels, and couples undergoing IVF treatment. It is concerning because carriers usually appear completely healthy and may not have any symptoms. We perform HPLC/haemoglobin electrophoresis tests to identify carrier status. If needed, genetic counselling helps couples understand their risks, evaluate family history, and make informed decisions before starting a family.”
Today, Dr Modi adds that advanced reproductive technologies allow the health experts to not only to help couples conceive but also to reduce the chances of passing serious hereditary conditions to the next generation. Through carrier screening, prenatal diagnosis, and techniques such as genetic testing of embryos during IVF, couples can better understand their reproductive options. “Unfortunately, many people still seek genetic testing only after facing pregnancy loss or complications. Awareness regarding premarital and preconception screening is extremely important, especially in high-risk populations. A simple test done at the right time can make a significant difference in ensuring healthier future generations,” she concludes.
