With other options ruled out, her mother became the half-matched donor. Her sister was diagnosed with tuberculosis, her child was underage and underweight, and her husband wasn’t a match, leaving limited choices
Published Jul 24, 2025 | 7:39 AM ⚊ Updated Jul 24, 2025 | 7:39 AM
From left: Dr Madhumitha, Dr M A Raja, Ms Janani, Dr Gopinathan
Synopsis: Doctors at MGM Cancer Institute successfully performed a complex bone marrow transplant on a 33-year-old woman with GATA2 primary immunodeficiency, a rare immune disorder linked to blood cancer risk. After other donor options were ruled out—including her sister, child, and husband—her mother became the half-matched donor. Despite compatibility challenges, the procedure was completed successfully, offering renewed hope for recovery
Doctors at MGM Cancer Institute have successfully performed a complex bone marrow transplant on a 33‑year‑old woman diagnosed with GATA2 primary immunodeficiency, a rare genetic disorder that weakens the immune system and increases the risk of serious blood cancers.
Her mother became the half‑matched donor after other options were ruled out. The medical team first considered her sister, but she was later diagnosed with tuberculosis and could not donate. They also assessed her child, but he was underage and underweight, and her husband was not a suitable match. With these limitations, the team proceeded with her mother as the donor despite the challenges of a half‑matched transplant.
“This patient had been living with GATA2‑related primary immunodeficiency for nearly 24 years. Bone marrow transplantation is the only definitive cure for this condition, but achieving success requires a highly individualised approach, especially in complex cases. In her case, we performed a half‑matched (haploidentical) transplant, where the donor shared only 50 percent of her genetic profile,” said Dr. Gopinathan, Consultant, Hemato‑Oncology, MGM Cancer Institute, who led the procedure.
He added that, “This factor made the transplant significantly more challenging, particularly when it came to administering chemotherapy, which had to be carefully tailored due to her compromised lung function.”
Dr. M.A. Raja, Director and Senior Consultant, Medical Oncology, said, “GATA2 immunodeficiency is an exceptionally rare form of primary immunodeficiency, especially in adults, with only about 2% of cases presenting in adulthood. It is scarcely documented in medical literature and is known for its highly variable. Due to its progressive nature, early diagnosis is often difficult but critical.
He also mentioned, “Research indicates that approximately 70 percent of individuals with GATA2 mutations eventually go on to develop myelodysplastic syndrome or acute myeloid leukemia. Therefore, bone marrow transplantation is crucial as a potential cure, and it reduces the long‑term risk of malignant transformation.”
Dr. Madhumitha R, Senior Consultant, Infectious Diseases and Infection Control at MGM Healthcare, Chennai, was also present during the meeting. She was the first doctor Janani approached when she was being treated for tuberculosis.
Speaking to South First, Dr. Gopinathan explained that the public should be aware of symptoms that might point to an underlying immune deficiency, because missing them can lead to serious consequences. “If these conditions are not diagnosed in time, they can lead to life‑threatening complications,” he said.
He also mentioned, “They can slowly affect different organ systems if they are not identified early.” He pointed out that in this case the patient had lived with recurrent infections for 24 years before the root cause was identified, which shows how long these problems can go unrecognized.
On early diagnosis, he said that identifying the condition early allows doctors to plan better treatment with fewer complications during a transplant. “Early detection means better preparation and not much complication during the transplant,” he said.
He also added, “We are performing all sorts of transplant services in India, including matched, unrelated and haploidentical techniques.” His advice to families noticing unusual health issues was clear as he urged, “If you see something unusual in health that does not settle, please go to a specialist and get it checked.”
Ms. Janani, who underwent the transplant, shared her long journey of illness and uncertainty before reaching MGM Cancer Institute. She recalled how symptoms lingered for years without a clear answer. “It is not a one‑year, two‑year, it is 13 years of struggle,” she said, describing how abnormal blood levels and recurring fevers became part of her life.
She spoke about going from hospital to hospital, consulting dozens of doctors, carrying three bags of reports, yet never receiving a clear diagnosis. “I asked them how long I would be alive… they told me that I would be alive for three months,” she said, explaining how those words pushed her to seek a cure before her condition could progress to blood cancer.
Before reaching Dr. Gopinathan, Ms. Janani first consulted Dr. Madhumitha, who guided her to the specialist team that could perform the transplant. “I approached Dr Madhumitha first to treat Tuberculosis, later, she handed me over to Dr Gopinathan,” she said, describing how that referral changed the course of her treatment.
When she finally reached the right team, her fight for treatment took on new hope. “I had full faith in Dr Gopinath and team, they gave me a second chance to live,” she said, thanking the doctors, nurses, and attendants who guided her through the 33 days in isolation during recovery. She shared how thoughts of her young child gave her strength. “I wanted to live for my child,” she said, urging others not to give up, no matter their age. Her testimony stood as a reminder that timely treatment and support can make the difference between despair and survival.
(Edited by Ananya Rao)
