World’s first case of novel mutation in blood undergoes bone marrow transplant in India

A 17-month-old baby from the Philippines detected with rare NF-E2 mutation in blood at birth at was treated successfully at Indraprastha Apollo Hospitals, New Delhi. A congenital defect, the condition is characterized by exceptionally low levels of platelets

New Delhi: Doctors at Indraprastha Apollo Hospitals, New Delhi, successfully performed a  bone marrow transplant of a 17-month-old Filipino baby, for what can be called as world’s first-ever case of a novel mutation in the blood (NF-E2). The baby had been bleeding profusely immediately after his birth.
The doctors noticed that the child was suffering from incessant bleeding from his mouth and abdomen, due to progressively falling platelet levels. The diagnosis was unclear and even after regular platelet transfusion, there was no sign of recovery in the child’s condition. Consequently, the child was getting weaker by the day and with the continuous loss of blood, his life was under threat.
For further treatment, he was referred to a center in Dubai, UAE where a team of doctors conducted a genetic analysis on the child which revealed that he was suffering from a novel blood mutation called NF-E2. NF-E2 is a congenital defect that is characterized by progressively falling and abnormally low platelet levels, hence the bleeding manifestations in the child posing a threat to his life. The child was put on blood transfusions in Dubai, but the doctors knew that a successful Bone Marrow Transplant was the last hope for the child’s survival.
The father of the child said,” From the first day of his birth our child had been suffering. With excess blood loss, followed by platelet and blood transfusion our baby had become weak and unlike other 1 year old children of his age he wasn’t developed enough to even walk. We were initially apprehensive of a Bone Marrow Transplant but when the doctors told us that it was the last chance of saving our child we agreed and we are so glad that we did. “
As a first of its kind case to have ever been reported in the world (first published in British Journal of Hematology), the doctor’s in Dubai were not fully equipped to conduct a procedure for Bone Marrow Transplant for such a condition. Hence they referred him to India to Dr Gaurav Kharya, Clinical Lead, Centre for Bone Marrow Transplant and Cellular Therapy & Senior Consultant, Pediatric Hematology, Oncology and Immunology, Indraprastha Apollo Hospitals, New Delhi.  While planning this Bone Marrow Transplant the biggest challenge was understanding how this novel mutation would behave during the procedure as a number of mutations react to chemotherapy drugs in a very different manner.
Dr Kharya, who was leading this case, said, “When the child was brought to us, he had undergone multiple cycles of blood transfusion. As there was no HLA (Human Leukocyte Antigen) compatible donor in the family, we did a half match bone marrow transplant with his mother as a donor. This was a very rare case due to the novel blood mutation (NF-E2).
While we did a successful bone marrow transplant procedure, the difficulties of the child did not end. After 60 days post-transplant we noticed that the graft received from his mother is coming down and child’s own defective bone marrow was trying to take over. We had to then transfuse some immune cells from the mother to the child at ever 2 weekly intervals and it was only after 4 weeks post-transplant that the bone marrow started functioning normally.”