How does IVF help you avoid thalassemia? A new hope for couples

It is common knowledge that would-be parents want to give their children the healthiest possible start. For many couples in India, this remains a distant dream as they fear passing down severe hereditary conditions. Among these several hereditary conditions, one that remains predominant is Thalassemia. Medical experts explain Thalassemia as a blood disorder that weakens the body’s ability to produce haemoglobin, leading to severe anaemia, which remains a significant public health concern. Couples carrying the thalassemia trait have faced uncertainties over the years due to a lack of awareness regarding the illness. However, that is changing with evolving medical technology. One such technology, at the intersection of reproductive medicine and advanced genetics, is changing history, allowing families to choose health over chance.

Current circumstances of thalassemia in India

India is still considered the thalassemia capital of the world. Millions of asymptomatic carriers are unaware of their status until they have an affected child. Reports suggest that about 10,000 to 15,000 children are born with Thalassemia Major every year in India. Additionally, a Thalassemic patient has to endure blood transfusions and iron chelation therapy on a long-term basis, which takes a heavy emotional and financial toll on both the patient and their families.

The conventional method that couples relied on for detecting Thalassemia in their unborn children was primarily prenatal testing during pregnancy. However, this often led to the difficult decision of ending the pregnancy if the fetus was found to be affected. Fortunately, modern fertility clinics are shifting their focus from managing a genetic disorder to preventing it entirely before a pregnancy occurs.

IVF and PGT for thalassemia prevention

The medical world has made a breakthrough in preventing genetic disorders such as Thalassemia. Experts have found that by combining In Vitro Fertilisation (IVF) with a specialised screening technique known as Pre-implantation Genetic Testing (PGT), specialists can screen embryos for specific genetic mutations before transferring them to the uterus.

Speaking on the matter, Dr Ila Gupta said, “Many couples believe IVF is exclusively for those facing traditional infertility. In reality, IVF serves as a vital bridge for fertile couples who happen to be carriers of genetic disorders, allowing them to ensure their future children are born free of these conditions.”

To understand it better, let’s have a look at the procedure:

1. Embryo creation: In this stage, the couple undergoes a standard IVF cycle to create embryos.
2. Biopsy and screening: Fertility specialists extract a few cells from the embryos at the blastocyst (early-stage embryo) stage.
3. Genetic analysis: Experts analyse the DNA specifically for the thalassemia gene using PGT for monogenic disorders (PGT-M).
4. Healthy transfer: After identifying unaffected embryos, doctors select healthy embryos for implantation.

“The goal is not to intervene with nature, but to use advanced science to break a generational cycle of pain,” Dr Gupta added. “It brings an immense sense of clarity and peace of mind to couples who previously feared building a family.”

Taking note of the fact that one of the primary obstacles to preventing genetic disorders is the lack of timely awareness, couples should consider early genetic counselling and carrier screening to make informed decisions regarding their future.