NEW DELHI: Siblings, Radhika Jha, 10, and her younger brother Shivansh, 8, from Pune, have been leading a normal and blood transfusion-free life since 2018 and 2022, respectively, after their successful haploidentical bone marrow transplants (50% HLA match) procedures at Dharamshila Narayana Hospital in the city.
They were diagnosed with thalassemia major a few months after their birth. The genetic disorder made the two children dependent on monthly blood transfusions.
According to doctors, the children underwent haploidentical bone marrow transplants (BMT) that involves using a donor who shares half of the necessary genetic markers with the recipient. Radhika's donor was her father, and Shivansh’s donor his mother.
"The first eight years after the birth of our first child in 2014 were the toughest period of our lives. In fact, we have started living and leading a normal life after my children underwent bone marrow transplantation in 2022," said Ashutosh Jha, a software engineer in Pune. He added that though the period was very tough, they didn't lose hope.
“We tried almost every possible option to find a cure for our daughter's condition, but without success. The only solutions were either a bone marrow transplant (BMT) or a lifetime of blood transfusions. A doctor in Pune suggested having another baby to get a matching transplant without much complication. Without any delay, we planned our second child two years later. We went for a prenatal diagnosis at 8 weeks to a genetic counsellor, as we are both thalassemia minor carriers, a condition in which blood transfusion is not required.”
The doctor suggested doing the diagnosis at the 16th week, as it would have fewer complications and no harm to the baby. However, the result came after one month, by which time 20 weeks had passed. Unfortunately, the sample was also infected. "Though our family became complete, we were now parents to two thalassemia patients," Jha said.
They were devastated, he said. In August 2017, Ashutosh and Preeti arrived at Dharamshila Narayana Hospital, hoping to give their children a new life.
"After extensive tests, Ashutosh was finally chosen as a donor. On March 26, 2018, Radhika took the leap of faith into her new life, now free of thalassemia," said Dr Suparno Chakrabarti, consultant haematologist and BMT specialist, head & program director — haploidentical BMT and haematology.
After the success of the procedure, the parents wanted the same for Shivansh.
However, the covid-19 pandemic arrived.
Nevertheless, they persevered, and it was Shivansh's turn on Jan 30, 2022. The donor was Preeti.
Dr Sarita Jaiswal, consultant haematologist and BMT specialist, program director of haploidentical BMT, said that when both the parents carry the thalassemia trait, known as thalassemia minor, their offspring face varying probabilities of inheriting the condition.
"In such cases, there is a 25% chance of the child inheriting a normal haemoglobin genotype, free of thalassemia. Conversely, there is a 50% likelihood of the child becoming a thalassemia carrier, inheriting one thalassemia gene and manifesting as thalassemia minor. Typically, carriers of thalassemia minor experience mild symptoms or remain asymptomatic. However, the most severe outcome, thalassemia major, occurs in 25% of cases when the child inherits thalassemia genes from both parents," she said.
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