New Delhi: A Delhi-NCR-based hospital has claimed to have successfully treated a 12-year-old Sudanese boy suffering from a rare genetic bone marrow disorder using a half-matched bone marrow transplant.

This is the first known case in India of MYSM1-related bone marrow failure syndrome (BMFS4) -- with less than 20 such cases reported globally -- treated with a haploidentical stem cell transplant, the hospital said.

The patient, Tagieldin Aymen Hassan Abdelazem, had been experiencing symptoms since infancy, including severe anaemia requiring regular blood transfusions, the statement said.

MYSM1 is a gene involved in regulating blood cell production, whose dysfunction leads to progressive bone marrow failure, it said.

Explaining the complexity of the case, Dr Arun Singh Danewa of Artemis Hospitals, said, "In simple terms, the MYSM1 gene is like a master controller for blood production. When it does not function properly, the bone marrow gradually shuts down. This was a very rare and challenging case, and we had to carefully modify the transplant approach to ensure both safety and effectiveness."

Initially suspected to have Diamond-Blackfan anaemia, Abdelazem responded to steroid therapy in early childhood, but his condition worsened at the age of 11 with recurrent anaemia and low platelet counts, prompting further investigations.

The statement further said that in the absence of a fully matched donor, the child underwent a haploidentical stem cell transplant from his father on January 31 this year, using a reduced-intensity conditioning regimen with radiation avoided to minimise the long-term toxicity.

The statement further claimed that the transplant was successful, with blood cell recovery observed within 12 to 14 days and 100 per cent donor chimerism achieved by day 30, indicating full acceptance of donor cells.

The patient required around three weeks of hospitalisation in a specialised sterile isolation unit and is now stable, visiting the OPD only for routine follow-ups, the statement said.

The child's father, who was also the donor, said seeing his son recover after years of illness has restored hope for the family.

The case demonstrates that haploidentical transplantation, along with post-transplant cyclophosphamide, can serve as an effective treatment option, particularly in the absence of matched donors, the hospital added.

This report was published from a syndicated wire feed. Apart from the headline, the EdexLive Desk has not edited the copy.