IVF technology to save a 5-year old Thalassemia major by producing India’s first saviour sibling

February 28, 2019 0 By FM

In an advanced scientific technique undertaken by Nova IVI Fertility, a child perfectly designed to become a human leukocyte antigen (HLA) match to its thalassemia suffering older sibling, was born successfully. Thus the new born is potentially the donor of bone marrow for his brother.

Both the parents of the children were carriers of thalassemia. They had two children, one of of 7 and 5 year old. The 5 year old son was found to be suffering from thalessemia major who required monthly blood transfusion with frequent chelation. The child was advised for a bone marrow transplantation.

The unavailability of matched HLA donors for the transplant led the couple to opt for in vitro fertilization (IVF) with HLA matching by undergoing pre-genetic diagnosis and screening test (PGD and PGS).

The couple underwent multiple IVF cycles to create a pool of embryos for testing. Out of 18 embryos biopsied only one was found to have a matching HLA which showed normal on PGD testing. The embryo was then transferred successfully in its first cycle which resulted in a successful pregnancy, delivering a healthy baby.

The treatment was successfully carried under the team of medical experts led by Dr.Manish Banker, medical director at Nova IVI Fertility.

Discussing on the procedure Dr. Manish Banker, said, “Since Thalassemia is a genetic disorder, there’s no way to prevent it. However, if both the partners are carriers of Thalassemia minor, it can be tested early in pregnancy and the couple can choose abortion, if the foetus is found to have Thalassemia major. Another option is to opt for an IVF cycle with PGD (Pre-Implantation Genetic Diagnosis) testing. In such cases, the parents are tested for their specific genetic defects and a targeted PGD probe is created. After the IVF treatment, embryos are tested for the particular Thalassemia gene defects before these embryos are implanted in the uterus. So, only normal or minor form of disease carrying embryos is implanted for pregnancy.”

The baby was found to be a perfect HLA match to the sibling and a bone marrow transplant is planned in future for the affected child.

Thalassemia can be detected by simple blood tests like CBC (complete blood count) test and hemoglobin electrophoresis test.

Lack of awareness and ignorance often leads to patients ending up transferring faulty genes to their children which can be prevented by undergoing tests that can be done before birth to learn for any possible defects in the baby.