Thalassaemia, a genetic blood disorder affecting millions worldwide, remains a silent but serious health concern, particularly among couples planning a family. According to the World Health Organisation (WHO), an estimated 7% of the global population carries the gene for thalassaemia or another hemoglobin disorder. With over 330,000 babies born annually with severe forms of thalassaemia, this condition can lead to life-threatening complications if left undetected.

For aspiring parents, understanding their genetic risk and undergoing thalassaemia testing before pregnancy is not just a responsible choice but a critical step towards preventing severe anemia, organ damage, and other potentially fatal health issues in their future child. Raising awareness about thalassaemia could help reduce its impact, ensuring healthier families and generations to come.

Why do couples need to consider a blood test before marriage?

• Identifying Genetic Risks: A blood test can reveal if one or both partners carry the thalassaemia gene. This knowledge allows couples to make informed decisions about their family’s future.
• Preventing Inherited Disorders: By detecting the thalassaemia gene early, couples can take necessary steps to reduce the chances of passing the disorder to their children.
• Detecting Other Genetic Conditions: Blood tests can also uncover the risk of other inherited conditions, providing an additional layer of protection for future generations.
• Managing Risks Proactively: If one partner is a carrier of thalassaemia, it doesn’t automatically mean their children will have the condition. However, knowing the risks in advance enables couples to plan for early detection and treatment if necessary.

Dr Jayesh Amin, Clinical Director of Nova WINGS IVF, highlighted that India has the world’s highest number of children with Thalassemia major, estimated at 1 to 1.5 lakhs, with around 42 million carriers of the β (beta) thalassemia trait.

Every year, approximately 10,000 to 15,000 babies are born with Thalassemia major. Couples who carry the Thalassemia gene often do not show any symptoms and may appear healthy, though some might have a history of miscarriage or a child already affected by the genetic condition.

Despite the lack of visible symptoms, they can pass on this genetic disorder to their offspring, leading to serious health concerns. Couples must undergo Thalassemia screening, which involves a simple blood test. If one partner is a Thalassemia minor, the other partner should also be tested.

In cases where both partners are carriers, the embryo must be tested. Advanced techniques, such as Preimplantation Genetic Testing (PGT-M), allow for the selection of healthy embryos free from genetic disorders.

PGT-M is conducted before pregnancy and significantly reduces the risk of having a child affected by Thalassemia major.

This approach involves testing embryos created via in vitro fertilisation (IVF) and transferring only the unaffected ones into the uterus, thereby improving the chances of a successful pregnancy while minimising the risk of passing on the genetic condition.

Dr Tanveer Aujla, Senior Consultant Obstetrician & Gynaecologist, Motherhood Hospital, Noida shares inputs on how thalessamia can cause complications to expectant mothers. “Thalassemia is a genetic condition caused by defective haemoglobin genes, which can significantly impact pregnancy. While many women are aware of their thalassemia status before pregnancy, particularly in moderate to severe cases, milder forms may only be diagnosed when seeking treatment for anemia or other health concerns.

During pregnancy, the chronic anemia associated with thalassemia can reduce the oxygen supply to the fetus, leading to risks such as intrauterine growth restriction (IUGR), where the baby’s growth is below the expected norm.

For the expectant mother, thalassemia can lead to serious complications, including high blood pressure, gestational diabetes, kidney or gallbladder stones, urinary tract infections, and even placental abruption.

Additionally, the condition can place a strain on the heart, requiring close monitoring and specialised care throughout the pregnancy.

It’s essential for couples planning a family to get screened for thalassemia. Early diagnosis and management can make a significant difference, helping to ensure a safer pregnancy and healthier outcomes for both mother and baby.”

Getting tested for thalassaemia is crucial for couples planning a pregnancy, as it can significantly reduce the risk of passing on the gene and prevent life-threatening complications in their future child.

Thalassaemia is a hereditary blood disorder, and if both partners are carriers, there is a 25% chance that their child will inherit the severe form of the disease.

By undergoing testing, couples can be informed about their genetic status and explore options such as genetic counselling, early detection, or alternative reproductive methods like IVF with genetic screening.

This proactive approach can ensure that their child has a healthier start in life and prevent the devastating effects of severe anaemia, organ damage, or other complications associated with thalassaemia.