Bone marrow transplant saves five-year old from monthly blood transfusions
He added that genetic tests done after Poornima’s birth revealed it was a hereditary RBC membrane defect called Hereditary Spherocytosis- Type 1
Mumbai Poonima S, a five-year-old girl with a rare hereditary disorder that caused her red blood cells to balloon and burst leading to severe anaemia, underwent a successful bone marrow transplant (BMT) at a city hospital recently.
Born to a couple in Andheri, she was diagnosed with severe anaemia when her mother was just six months pregnant. Since then, as a foetus, Poornima underwent regular blood transfusions until July, when the transplant took place. Doctors said the mother had previously lost two of her pregnancies to severe anaemia in the seventh month.
“During the 20th week of pregnancy, we found out that the foetus had severe anaemia. Her haemoglobin was as low as 1g/dl and she was on the verge of dying. The normal foetus haemoglobin level is 22-24 g/dl. We had to start intrauterine (within the uterus) blood transfusions to save the child,” said Dr Santanu Sen, paediatric haematologist and bone marrow transplant physician at Kokilaben Dhirubhai Ambani Hospital, Andheri.
He added that genetic tests done after Poornima’s birth revealed it was a hereditary RBC membrane defect called Hereditary Spherocytosis- Type 1.
“This also explains why the couple lost two earlier pregnancies because of severe anaemia,” said Dr Sen.
Faced with the challenge of finding the blood group of the foetus to start intrauterine blood transfusion, doctors decided to start O-negative- the universal blood type.
“O negative is the most common blood type used for transfusions when the blood type is unknown. Three intrauterine blood transfusions were given between the 20th and 28th week. We had to go for a premature delivery as the haemoglobin counts were not picking up,” said Dr Sen.
According to the doctors, Poornima underwent blood transfusions once or twice every month. Determined to find a permanent cure, the parents approached other hospitals before KDAH suggested a bone marrow transplant as a possible cure.
To treat the child, the doctor got in touch with international doctors and found a cure known to doctors in the UK and USA, where two patients with similar disorders were treated with a bone-marrow transplant.
Dr Sen said the second challenge for them and the parents was to find the right match (donor) for the transplant. “We took on the difficult task of finding the best possible donor for her transplant. Unfortunately, none of the family members were appropriate as a donor for her. We then approached DATRI, India’s largest unrelated Blood Stem Cell Donors Registry, and found the match,” he said. The bone marrow transplant was done on June 24 and she was discharged at the end of July.
Dr Sen added that Poornima’s spleen, a fist-sized organ in the upper left side of your abdomen, next to the stomach, was removed, she was kept in the hospital for a month to monitor possible infections post the transplant.
“Spleen is an important part of our immune system, but we can survive without it. We had to be cautious with her. Luckily, she recovered well. She came for the first follow-up yesterday and there are no complications post the transplant. She and her parents are free from the trauma of undergoing blood transfusion every month,” he said.
Subarao S, her father, a marketing executive, said that the struggle of seeing a child suffer was a nightmare. “We had to also struggle to find the blood donor as O negative is a rare blood group. We also had to do complete blood count (CBC)- a blood test, every two weeks to monitor her haemoglobin levels before going for blood transfusion,” he said.
Subarao said Poornima can now lead a normal life after the transplant.
Dr Shweta Bansal, senior consultant in Bone Marrow Transplant, Haemato Oncology at SRCC Children’s Hospital, KJ Somaiya Hospital, said that this hereditary disorder is generally treated with spleen removal. “While we do not treat this disorder with BMT, I have not come across a case like Poornima,” she said.