This October we are looking at rare diseases and fertility. Nova IVI Fertility, based in India, had a recent case of a couple who were looking for help with their child who has blood disorder, thalassemia
Here they discuss how they helped the couple conceive a saviour sibling and the treatment involved…
What can a couple do to help their child diagnosed with thalassemia?
In the case of Alpa and Sahdev Singh Solanki, they turned to Nova IVI Fertility. And we helped them have a third child – India’s first saviour sibling born through IVF. Bone marrow from the third child, will in some time help the sibling recover fully from the disease.
This was possible only because of the advanced science and high levels of expertise which Nova IVI Fertility brought to bear on the case.
What is thalassemia and how is it caused?
Thalassemia is a form of anaemia and results in chronic tiredness, bone problems, spleen problems, along with heart disease. A genetic disorder, which an estimated 8,000 to 10,000 babies born every year in India.
Because, it is an inherited disease, when both parents are carriers of the gene, but not suffering from the disorder (people like this are known as having thalassemia minor), it can be passed on to the children. Affected children are referred to as being thalassemia major.
For less severe cases, nutritional supplementation and regular blood transfusions are one of the ways of treating and managing the condition. There are other therapies too, but, especially in younger children, bone marrow transplantation from a matching donor helps overcome the disease in 80 to 90 percent of the cases.
The problem with this is finding a matching donor, one who’s HLA (Human Leucocyte Antigen) is identical with the patient’s. Internationally, thanks to 22.5 million donors, the possibility of finding a match for an Indian patient is 16 percent. But in India, because there are just over 30,000 donors the chance is a measly 0.008 percent.
So what do parents of a child suffering from thalassemia do? If they are like the Solankis, they turn to the idea of having a saviour sibling.
What is a saviour sibling?
A saviour sibling is a sister or brother of the affected child, whose HLA is a perfect match for the bone marrow transplant. At birth, the undifferentiated stem cells from the mother’s umbilical cord are extracted and tested for a match. If they do, the affected child is given the transfer. This process does not harm the mother or the newborn in any way.
The Solanki’s story
The Solankis already had two children – a seven-year-old and a five-year-old, the older thalassemia free and the younger one, the sufferer. Unfortunately, their older child’s HLA did not match. But for the Solankis, it was not as simple as having another child.
With both parents being carriers of the gene which causes the disease, there was a likelihood of the next child also having thalassemia. The only way they could ensure both a thalassemia-free child with a perfect HLA match, was by having a child whose genes could be checked before conception, i.e. by advanced diagnosis and very high quality IVF.
This is why the Solankis turned to Nova IVI Fertility. And we did not let them down.
What Nova IVI Fertility did
After extensive discussions, the clinical team, led by our medical director Dr Manish Banker, came up with a detailed plan.
The couple underwent three cycles of IVF to generate 18 embryos. With 18 embryos, the likelihood of having a normal embryo was much better.
The embryos were examined on day five of their development (blastocyst) using PGD – preimplantation genetic diagnosis – which allows for checking both the probability of an HLA match and the presence of thalassemia major.
PGD resulted in finding two normal, eight carrier and eight abnormal embryos.
When HLA matching was done, this was the result: Five matched – one normal, one carrier and three abnormal.
Only the matched normal embryo was used and the child born was found to be 10/10 HLA matched with the sibling and a bone marrow transplant is planned in the near future for the affected child.
Why it is special?
While the theory is well known, the actual procedure requires enormous expertise from the doctors, very high levels of skill set in the team of embryologists and access to world-class technology. Added to this is the following of extremely rigid protocols (the way the procedure is done).
At Nova IVI Fertility, we are glad that the Solanki’s trusted us with the future of their children and we thank them for the opportunity to carry out this groundbreaking treatment.