A 12-year-old boy in Gurugram has been treated for a rare inherited bone marrow disorder linked to a mutation in the MYSM1 gene, in what doctors say is the first known case of its kind reported in India. The condition affects the body’s ability to produce healthy blood cells and has been reported in only a small number of patients worldwide, making it difficult to identify and treat.
Symptoms of MYSM1-related bone marrow failure
The patient had symptoms since he was a baby, including severe anemia that made him need regular blood transfusions. At first, doctors thought he might have Diamond-Blackfan anemia, and he did respond to steroid treatment when he was young. But when he was 11, his health got worse, with more anemia and low platelet counts, which led to more tests. Doctors at Artemis Hospitals treated the extremely rare genetic condition using a half-matched (haploidentical) bone marrow transplant.
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Dr Arun Singh Danewa, Senior Consultant in Pediatric Hematologic Oncology & Bone Marrow Transplant (Unit II), Artemis Hospitals, said, “This was a very rare and challenging case. The child had an unusual genetic condition affecting the bone marrow, and such cases are extremely uncommon worldwide. While a bone marrow transplant is the only curative option, the difficulty here was that we could not follow a standard approach. Because the disease is driven by a specific genetic defect, we had to carefully modify the transplant conditioning regimen to make it both safe and effective for this child. Balancing the risk of toxicity with the need for successful engraftment required very close planning and monitoring.”
Advanced diagnostic testing, including next-generation sequencing, showed that there was an MYSM1 gene mutation and that the bone marrow was failing, which confirmed the diagnosis. On January 31, 2026, the patient received a haploidentical stem cell transplant from his father because his condition was getting worse.
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Why is this condition rare?
Blood cells bounced back within two weeks after the successful transplant. There was 100% donor chimerism by day 30, which meant that the recipient’s body had fully accepted the donor cells. There were no major problems. The procedure necessitated a three-week hospitalization in a stringent, sterile, high-tech isolation unit. He is no longer a patient in a room but an active boy in the OPD coming in only for routine check-ups as his new marrow settles in. This case is particularly significant due to the rarity of the condition.
What does MYSM1 deficiency look like?
Doctors stressed that MYSM1 deficiency can look a lot like other inherited bone marrow failure syndromes in their early stages, which can make it hard to diagnose without advanced genetic testing. The disease progresses from isolated anemia to multilineage cytopenia over time. This case shows that haploidentical transplantation with post-transplant cyclophosphamide can be an effective treatment for patients, particularly in the absence of matched donors.
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(This article is based on information available in the public domain and on input provided by experts consulted.)
