Docs in Bengaluru hospital save Pakistani girl with rare genetic disorder through bone marrow transplant

04:43 PM Sep 20, 2023 | PTI |

An 11-month-old girl from Pakistan had a miraculous recovery from infantile Osteopetrosis, a rare genetic disorder through an innovative bone marrow transplant technique at a private hospital in the city. Samawiyah was just five-month-old when she was brought to Narayana Health City here for treatment as she was diagnosed with the rare and life-threatening condition infantile Osteopetrosis.


According to Narayana Health City, the rare genetic disorder also referred to as ”marble bone disease,” poses severe challenges, including bone stiffness, progressive loss of vision and hearing, and bone marrow failure, ultimately leading to death within few years of life. A bone marrow transplant offers hope for a cure, but with significant risks of rejection and other complications.

In a statement, the hospital said, “The added complexity in Samawiyah’s case was the absence of a full-match donor within her family or the donor registries in Pakistan….Upon her evaluation in March when she was just five-month-old, Samawiyah already displayed mild visual impairment, prompting an urgent cranial decompression procedure to safeguard her eyesight. Subsequently, she underwent a meticulous pre-transplant preparation and received a half-match donor transplant using her father’s stem cells on May 16. What sets Samawiyah’s case apart is the innovative TCR Alpha Beta and CD 45 RA depletion technique employed during the transplant. This cutting-edge method, tailored for patients without full match donors, has shown remarkable success, it said. “Today, over four months post-transplantation, Samawiyah is declared free from infantile Osteopetrosis, with 100% donor cells in her blood. Her journey to recovery is underway, and her bone remodeling is progressing positively,” it added. Dr. Sunil Bhat, Vice Chairman of Oncology and Director and Head of Paediatric Hematology Oncology and BMT at Narayana Health City, said: ”We now hope that she’s going to be like any other normal child and is cured of this very rare but dreaded disease. She’s traveling back to her hometown. It was a pleasure to know this family from Pakistan.”


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