On World Thalassemia Day, Birla Fertility & IVF Raises Awareness on Carrier Screening and Informed Reproductive Planning

Bhubaneswar : When Vaishali experienced a pregnancy loss at the age of 33, the grief was compounded by an unexpected diagnosis. The foetus had Thalassemia Major, a severe inherited blood disorder that would have required lifelong medical care. Subsequent testing revealed what neither she nor her husband Rahul had known. Both were carriers of the thalassemia gene. This meant that every natural pregnancy carried a risk of the child inheriting the condition.

Their experience reflects a larger and often invisible public health reality. India is home to an estimated 35 to 45 million beta thalassemia carriers, roughly 3 to 4% of the population, yet many people remain unaware of their carrier status. Thalassemia minor usually produces no significant symptoms. Carriers may feel healthy, live normally and have no reason to suspect that their child could be born with a condition requiring regular blood transfusions, specialist monitoring and lifelong medical care. Approximately 10,000 to 12,000 children with Thalassemia Major are born in India every year. With timely carrier screening, genetic counselling and informed reproductive planning, many affected births can be prevented.

The prevalence of thalassemia carriers in Odisha is estimated at 5 to 10%, with higher carrier rates reported in parts of western and tribal Odisha. The state has undertaken focused screening and treatment efforts through programmes such as the Control of Thalassemia and Sickle Cell Disease project in collaboration with CMC Vellore, along with identification, management and control measures under the National Health Mission, Odisha. These efforts highlight the need for greater public awareness, early carrier screening and timely counselling, particularly for couples planning a pregnancy.

For couples planning a family, carrier screening is the first step in understanding whether there is a risk of passing on an inherited condition. If both partners are identified as carriers, genetic counselling helps them understand the risk of transmission, the implications for future pregnancies and the options available to them. For couples who are already considering or undergoing IVF, PGT-M, Preimplantation Genetic Testing for Monogenic Disorders, may be considered when a known genetic mutation has been identified. It allows embryos created through IVF to be tested before transfer, helping couples make informed decisions and reduce the risk of passing on serious inherited conditions such as Thalassemia Major.

At Birla Fertility & IVF, Vaishali and Rahul received genetic counselling after their carrier status was confirmed. As part of their fertility care, IVF with PGT-M was discussed to help them plan treatment with greater clarity. Their treatment involved creating embryos through IVF and testing them at the blastocyst stage for the specific thalassemia mutation. A personalised strategy involving embryo pooling across two retrieval cycles was planned to maximise the number of embryos available for testing. A total of twelve blastocysts were generated and screened. Three were found to be genetically healthy and non-carrier embryos. The couple is now proceeding to frozen embryo transfer.

Dr Varsha Samson Roy, Head of Embryology at Birla Fertility & IVF, said, “Most couples still associate IVF only with infertility treatment, which is why many are unaware that reproductive science can also support families where a known genetic risk has been identified. The first step is carrier screening. If both partners are found to be carriers, genetic counselling helps them understand their risk and available options. For couples already considering or undergoing IVF, PGT-M can allow embryos to be tested for the known genetic mutation before transfer, so that unaffected embryos can be selected. Many couples discover their carrier status only after a pregnancy loss or the birth of an affected child. With timely screening and the right counselling, these conversations can happen much earlier.”

The medical and financial burden of managing Thalassemia Major, including regular blood transfusions, chelation therapy and specialist monitoring, falls heavily on families. Advancing awareness around carrier screening and reproductive counselling is therefore an important part of prevention. For couples planning a family, especially in regions where carrier prevalence is documented to be higher, a simple carrier screening test can provide critical information. If both partners are found to be carriers, they should be counselled on all available reproductive options. For those who are already pursuing IVF, PGT-M may be considered where clinically appropriate.

Birla Fertility & IVF offers genetic counselling, carrier screening support and PGT services across its network of centres in India. For couples who have questions about their genetic status and what it means for their family, timely medical guidance can help them make informed decisions before pregnancy.