World Thalassaemia Day: What every couple planning a pregnancy should know about Thalassemia

When planning for a family, many couples focus on physical health, lifestyle, and timing. However, understanding genetic risks, especially for inherited disorders like thalassemiacan be equally important. Thalassemia is one of the most common inherited blood disorders in India, affecting thousands of individuals each year. It is an inherited disorder wherein if both the parents carry the defective gene, they can pass on the condition to their children.For couples planning to start a family, understanding the risk of passing on genetic conditions like thalassemia is a crucial yet often overlooked step. With advances inreproductive genetics, carrier screening and preimplantation genetic testing for monogenic disorders (PGT-M) have emerged as essential tools in preventing the transmission of thalassemia to future generations.Thalassemia is an inherited blood disorder that affects how your body makes haemoglobin the part of red blood cells that carries oxygen. Because of changes (mutations) in certain genes, people with thalassemia don't make enough healthy haemoglobin. This can cause anaemia, which leads to tiredness, weakness, and in serious cases, problems with organs.There are two main types of thalassemia: alpha and beta. The more serious form, called beta thalassemia major, often needs regular blood transfusions and medical care for life.Thalassemia is passed down from parents to children. A child can only get the disease if both parents carry the faulty gene. If both are carriers, each pregnancy has a 25% chance the child will have thalassemia, a 50% chance the child will be a carrier, and a 25% chance the child won’t inherit the gene at all.Thalassemia in India: A Public Health ConcernIndia is home to over 100,000 individuals with thalassemia major, and an estimated 35 to 40 million carriers of the beta thalassemia gene, according to data from the Indian Council of Medical Research (ICMR) and the Thalassemia Federation of India. The disease burden is especially high in states such as West Bengal, Gujarat, Maharashtra, Punjab, and parts of Odisha and Assam, where carrier frequency ranges from 3% to 17% in certain communities.With approximately 10,000 to 12,000 thalassemia major births occurring annually in the country, early detection and preventive strategies are essential to curb this growing health challenge.Why Carrier Screening MattersCarrier screening is a simple blood test that checks whether an individual carries a gene mutation for certain inherited conditions, like thalassemia. Carriers usually show no symptoms and may never know they carry the gene unless tested. However, if both partners in a couple are carriers of beta thalassemia, there's a 25% chance with every pregnancy that their child will inherit the disease.For couples who are planning to conceive especially those from high-risk communities carrier screening offers a powerful opportunity to identify potential risks early. The test can be done before conception or as part of fertility treatment and provides critical information that can shape reproductive choices.PGT-M: A Science-Led Path to Healthy PregnanciesWhen both partners are confirmed carriers, Preimplantation Genetic Testing for Monogenic Disorders (PGT-M) offers a safe and effective way to prevent passing on thalassemia to future generations. PGT-M is used in conjunction with in vitro fertilization (IVF) and involves testing embryos for specific genetic mutations before they are implanted in the uterus.Here’s how it works:• Eggs are retrieved and fertilized through IVF to create embryos• On the fifth or sixth day, a few cells are safely biopsied from each embryo.• These biopsied cells are then checked for their genetic composition to identify if they carry the same defective gene that causes thalassemia • embryos that are free of the thalassemia gene are identified & selected for transfer, • This procedure ensures that the child is born free of the disease.This advanced technology offers hope to carrier couples, allowing them to build a healthy family without fear or uncertainty.Looking Ahead: Awareness is PreventionThalassemia is a life-altering condition, but it is also entirely preventable. Early testing, informed decision-making, and access to the right technologies can ensure that genetic risks do not stand in the way of building a healthy family. If you or your partner belong to a high-risk community or have a family history of thalassemia speak with a fertility specialist about carrier screening. One simple test can protect generations.