Baby with a novel mutation in blood (NF-E2) is the first in the world to undergo a successful bone marrow transplant.

About the Patient and Condition

A 17-month-old Filipino baby was detected with a rare NF-E2 mutation in blood at birth, a congenital defect characterized by exceptionally low levels of platelets. Continuous blood loss from the mouth and abdomen was life threatening for the baby.

Case Scenario

The baby had been bleeding profusely immediately after his birth. The doctors noticed that the child was suffering with 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. Consequently, the child was getting weaker by the day and with 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 genetic analysis on the child, which revealed that he was suffering from a novel blood mutation called NF-E2. 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 baby was further referred 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, Delhi. The patient was admitted to Indraprastha Apollo Hospitals on 4th October, 2019. After a successful bone marrow transplant, while he was discharged within a month, the doctors had to closely monitor his post-operative recovery for over a year. It was only recently on October 18th October, 2020 that the child underwent his final check-up and with no post BMT complications the child has been cured successfully.

Worldwide Scenario

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. NF-E2 is a congenital defect which is characterized by abnormally low platelet levels, with the bleeding manifestations in the child posing a threat to his life. While planning the Bone Marrow Transplant procedure, the biggest challenge was to understand how this novel mutation would behave during the procedure, as mutations react to chemotherapy drugs in a very different manner.

Expertise at Apollo Hospitals

Dr Kharya, also mentioned, “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 was coming down and child’s own defective bone marrow is trying to take over. We had to then transfuse some immune cells from the mother to the child at 2 weekly intervals and it was only after 4 weeks post-transplant that the bone marrow started functioning normally.”

Dr Gaurav Kharya further added that, “To ensure and measure the success of a bone marrow transplant procedure we always monitor the patient’s health for at least 365 days post BMT, to rule out/address any complications. The child has undergone his last check up with us in October this year and is living a healthy life.”

Apollo Hospitals – Touching Lives

Dr Atish Bakane, Associate Consultant, Centre for Pediatric Hematology Oncology, BMT and Cellular Therapies at Indraprastha Apollo Hospitals said, “This was a challenging case for us because we had never dealt with this novel mutation. Different blood mutations react to chemotherapy drugs in a different manner, hence we closely monitored this procedure and we were able to save the baby.”

The blood and bone marrow transplantation center at Apollo Hospitals, India has successfully performed over 1500 transplants. Apollo Hospitals, India is also considered as a trusted name in BMT for international patients. The hospital is equipped with highly qualified BMT team, stringent infection control norms and the latest technologies.

Patient’s testimonial

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 able 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.”