Boy with rare genetic disorder cured at BGS

Bengaluru: A 13-year-old child who had bleeding and an extremely low platelet count of 4000 was brought to BGS Gleneagles Global Hospital around a year ago. Clinical evaluation and a complete assessment of the patient indicated that the patient had Fanconi anemia (inherited form of aplastic anemia) which had transformed to a devastating blood malignancy known as Acute Myeloid Leukemia (AML).

Fanconi anemia (FA) is a rare genetic disorder that affects the bone marrow as well as many other organs. The bone marrow fails to produce healthy blood cells and platelets in people with Fanconi anemia. Blood problems and several types of cancer are more likely to occur in FA patients than compared to general population. FA patients usually also have certain structural abnormalities most commonly short stature.

The BGS Gleneagles Global Hospital's expert team, which included Dr. Govind Eriat, Consultant- Hematology and BMT Medicine, Dr. Rajeev Vijayakumar, Consultant, Medical Oncologist, Haemato-Oncologist and BMT Physician, and Dr. Prerana S. Nesargi, Associate Consultant, Paediatric Oncology and Haematology, achieved a major victory by curing the child of blood cancer. The next stage was HAPLO ALLO HSCT; else, the child would not survive for long either bone marrow failure or relapse of blood cancer. "Appropriate transplant treatment was commenced, but it was discouraging because the child did not have a sibling and we were unable to identify a match in the donor registry. After a thorough workup and counseling of the very high-risk status of HSCT in terms of mortality and morbidity, one of the parents volunteered to be the donor as a desperate measure. A haplo identical HSCT transplant, often known as a partly matched or half-matched transplant, was performed in June. The child's journey through hospitalization and discharge was like riding a roller coaster, with child discharged from the hospital on full engraftment. This case serves as an illustration of how confidence in science, perseverance, and outstanding teamwork can produce miracles and inspire us to treat our patients" added Dr. Prerana S Nesargi