A 12-year-old girl with Bloom Syndrome, a rare genetic disorder, underwent T-cell receptor alpha beta depleted haploidentical bone marrow transplant (BMT) using stem cells from her younger brother at a private hospital in the city.

The girl was diagnosed with the syndrome at the age of 10. Vimal Kumar G., senior consultant, Paediatric Haematology, Oncology, Blood and Marrow Transplantation, MGM Cancer Institute, said Bloom Syndrome is characterised by short stature and blood-related complications, and carries a risk of blood cancers such as acute myeloid leukemia.

The girl had Monosomy 7, a chromosomal abnormality involving the loss of one copy of chromosome 7, and Myelodysplastic Syndrome (MDS), a disorder in which the bone marrow fails to produce healthy blood cells. There is a risk of MDS progressing to leukemia, a press release said.

Rishab Bharadwaj, consultant, Paediatric Haematology, Oncology, Blood and Marrow Transplantation, said they planned to perform a BMT, and screened her parents and younger brother but they were not fully matched; her parents were carriers of the genetic mutation. They tried with stem cell registries in India and abroad but the efforts were futile.

A half-matched transplant was the next step. Her younger brother was six years old, and there was a weight difference between the two. The stem cells were harvested from the peripheral blood while keeping in mind the donor’s safety. The T-cells were depleted and the remaining infused, he added.

Doctors said the conditioning protocol for the patient had to be modified as children with Bloom Syndrome are highly sensitive to chemotherapy and cannot tolerate standard high dose regimens. “It is one year post transplant, and the girl has normal immune function,” he said.

M. Deenadayalan, head of department and clinical lead, Paediatric Haematology, Oncology, Blood and Marrow Transplantation, said awareness on stem cell donations remains to be low in India.

The case has been published in Paediatric Blood and Cancer, a peer-reviewed journal in paediatric haematology and oncology.

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Published – August 22, 2025 10:50 am IST