With their second child, the 33- and 35-year-old couple from Saharanpur, Uttar Pradesh, hoped to provide a matching donor for their first child, a 3-year-old boy, and cure the disorder through a stem-cell transplant .
However, to ensure a healthy second child, they opted for in vitro fertilization (IVF).
The woman had to undergo three IVF cycles, each of which required intensive hormone stimulation. Each cycle involves daily injections for at least 10-12 days followed by egg retrieval under anesthesia.
The procedure had to be repeated three times to collect a sufficient pool of 16-1 embryos to ensure the possibility of identifying at least one embryo free of thalassemia.Doctors at Jindal IVF, Chandigarh perform In Vitro Fertilization (IVF technology combined with Preimplantation Genetic Testing (PGT))
, reportedly used for the second time in India
4, 2024, and hope for thalassemia major patients.
“IVF is absolutely beneficial for PGT thalassemia and all single gene disorders where the mutation involved is known and is probably the only method available that can prevent passing on the affected mutation to future family generations. This gives us a chance to select a non-affected embryo thereby preventing transmission,” Dr Sheetal Jindal, senior consultant and medica director at Jindal IVF, Chandigarh, told IANS ahead of Thalassemia Day on May 8.
What is Thalassemia?
Thalassemia is an inherited blood disorder characterized by abnormal hemoglobin production, leading to anemia and potentially serious health complications. I is caused by a genetic mutation that affects the production of hemoglobin, a vital component of red blood cells.Patients require lifelong blood transfusion with at least one unit of blood within a maximum of 20 days.
How can IVF help?
Dr Manju Nair, clinical director-fertility, Cloudnine Group of Hospitals Bengaluru, Old Airport Road, told IANS that IVF with genetic testing can help reduce the risk of thalassemia by selecting embryos free from genetic mutations.
“This involves testing to identify carriers of thalassemia gene mutations. Both of my partners are carriers (that is, they carry an abnormal copy of the gene but do not have thalassemia themselves), so there is a risk of having a child with thalassemia if both pass on their abnormal genes,” she explained.
Couples with a family history of thalassemia or belonging to ethnic groups in which the prevalence of thalassemia is high should consider genetic counseling before conceiving or during early pregnancy.In normal cases, screening tests in the first trimester (first 12 weeks) may indicate the presence of such genetic disorders.
“IVF, combined with preimplantation genetic diagnosis (PGD) or preimplantation genetic testing (PGT), can potentially help prevent the risk of thalassemia in some situations,” Dr. Manju said.
According to Dr Sheetal, the success rate in such patients is "50-60 per cent and even higher because most of these women are otherwise fertile".
However, “IVF requires patients to take multiple injections daily. Moreover, even after so much effort, we may not be able to get a perfectly matched embryo, and sometimes may have to do more IVF cycles.It is also very expensive as a cycle can cost Rs 7-8 lakh,” he added.
“IVF with PGT is a wonderful treatment for couples with known genetic disorders. When I see suffering parents with an affected child, I really want to help them. Their entire lifetime, money and energy revolve around their affected child. The pain in such cases is so much that if one can tolerate it to some extent then it can be a great savior for the family and give the real joy of becoming a parent,” said the doctor.
However, to ensure a healthy second child, they opted for in vitro fertilization (IVF).
The woman had to undergo three IVF cycles, each of which required intensive hormone stimulation. Each cycle involves daily injections for at least 10-12 days followed by egg retrieval under anesthesia.
The procedure had to be repeated three times to collect a sufficient pool of 16-1 embryos to ensure the possibility of identifying at least one embryo free of thalassemia.Doctors at Jindal IVF, Chandigarh perform In Vitro Fertilization (IVF technology combined with Preimplantation Genetic Testing (PGT))
, reportedly used for the second time in India
4, 2024, and hope for thalassemia major patients.
“IVF is absolutely beneficial for PGT thalassemia and all single gene disorders where the mutation involved is known and is probably the only method available that can prevent passing on the affected mutation to future family generations. This gives us a chance to select a non-affected embryo thereby preventing transmission,” Dr Sheetal Jindal, senior consultant and medica director at Jindal IVF, Chandigarh, told IANS ahead of Thalassemia Day on May 8.
What is Thalassemia?
Thalassemia is an inherited blood disorder characterized by abnormal hemoglobin production, leading to anemia and potentially serious health complications. I is caused by a genetic mutation that affects the production of hemoglobin, a vital component of red blood cells.Patients require lifelong blood transfusion with at least one unit of blood within a maximum of 20 days.
How can IVF help?
Dr Manju Nair, clinical director-fertility, Cloudnine Group of Hospitals Bengaluru, Old Airport Road, told IANS that IVF with genetic testing can help reduce the risk of thalassemia by selecting embryos free from genetic mutations.
“This involves testing to identify carriers of thalassemia gene mutations. Both of my partners are carriers (that is, they carry an abnormal copy of the gene but do not have thalassemia themselves), so there is a risk of having a child with thalassemia if both pass on their abnormal genes,” she explained.
Couples with a family history of thalassemia or belonging to ethnic groups in which the prevalence of thalassemia is high should consider genetic counseling before conceiving or during early pregnancy.In normal cases, screening tests in the first trimester (first 12 weeks) may indicate the presence of such genetic disorders.
“IVF, combined with preimplantation genetic diagnosis (PGD) or preimplantation genetic testing (PGT), can potentially help prevent the risk of thalassemia in some situations,” Dr. Manju said.
According to Dr Sheetal, the success rate in such patients is "50-60 per cent and even higher because most of these women are otherwise fertile".
However, “IVF requires patients to take multiple injections daily. Moreover, even after so much effort, we may not be able to get a perfectly matched embryo, and sometimes may have to do more IVF cycles.It is also very expensive as a cycle can cost Rs 7-8 lakh,” he added.
“IVF with PGT is a wonderful treatment for couples with known genetic disorders. When I see suffering parents with an affected child, I really want to help them. Their entire lifetime, money and energy revolve around their affected child. The pain in such cases is so much that if one can tolerate it to some extent then it can be a great savior for the family and give the real joy of becoming a parent,” said the doctor.
