The pioneering Human Leukocyte Antigens (HLA) matching of embryos, which are checked and confirmed disease-free, before uterus implantation, which allows the birth of a disease-free saviour child to Thalassemia carrier parents, promises to bring relief to numerous such couples, and their Thalassemia-affected elder children.
Parents of a Thalassemia-affected 7-year-old boy from Ahmedabad underwent In vitro fertilization (IVF) treatment at Bavishi Fertility Institute in the hope of giving birth to a Thalassemia-free child, who could serve as a bone marrow donor for the elder sibling and permanently cure him.
In another case, another couple from Vadodara with a Thalassemia-affected child underwent IVF treatment at the institute with the same hope. A Thalassemia-free child was born to the first couple in August and to the second couple in October.
“The IVF treatment was done as usual, and embryos were formed. But, before transferring the embryos back into the uterus, they were tested for the presence of Thalassemia mutation. The embryos were further tested for HLA matching with the elder siblings. The embryos not affected by Thalassemia and matching with the affected children were transferred, resulting in the pregnancy,” said Dr. Falguni Bavishi of Bavishi Fertility Institute, who guided the couples throughout the process.
Fresh tests confirmed the two newborns are not suffering from Thalassemia and are HLA matches for the elder siblings. When fit to donate, they will donate their bone marrow and help their siblings get rid of the disease permanently.
“These were unique and rare cases at Bavishi Fertility Institute. In fact, very few such cases have been reported in the world. We are helping one more couple that has a child suffering from Thalassemia with the same treatment. The mother is four months pregnant,” Dr. Bavishi said.
The institute carried out the Pre-implantation Genetic Diagnosis or PGD testing of embryos before implantation.
Thalassemia is one of the most prevalent blood disorders in the world and more so in India. In most cases, parents don’t know they have Thalassemia Minor and learn about the disease only when a child suffering from Thalassemia Major is born.
Apart from regular blood transfusions, the only treatment for Thalassemia is a bone marrow transplant from an HLA matching donor. If the donor is a sibling or parent, the chances of HLA matching are good, but not 100%.
Earlier, the only choice for couples was to conceive and go for prenatal testing. In case the fetus turned out to be Thalassemia Major, the only option was to terminate. However, PGD and HLA matching help eliminate the risk of having the newborn having Thalassemia.
“This technique will have a far-reaching impact on society as Thalassemia affected children, who live with severely compromised health, can look forward to leading a healthy normal life,” added Dr. Bavishi.
The success of the two couples has already inspired one more couple from Bhavnagar to opt for the treatment at Bavishi Fertility Institute.
“Our six-year-old son is suffering from Thalassemia major and has undergone blood transfusion 84 times so far. Having a Thalassemia-free and HLA match bone marrow donor child is the only way of ending his suffering. We approached Bavishi Fertility Institute after learning about the two couples and are confident we too will have a Thalassemia-free child,” said Viramdevsinh Chudasama and his wife Jayshreeba.