At just 16 years old, Manav (name changed) had already been living with a rare blood disorder called X-linked Sideroblastic Anaemia, a condition in which the body is unable to produce healthy red blood cells properly (red blood cells help carry oxygen and support life-sustaining functions across the body).
Because of this, he had become dependent on frequent blood transfusions just to maintain his energy levels and overall health. Over time, his life began to revolve around regular hospital visits, with no permanent solution in sight.
Seeking a long-term cure, he consulted the transplant team at Sarvodaya Hospital, Sec 8, Faridabad.
The doctors evaluated his condition and advised a Stem Cell Transplant as the only definitive treatment. A stem cell transplant (also called a bone marrow transplant) is a medical procedure that replaces damaged or diseased blood-forming cells with healthy stem cells.
However, a major challenge soon emerged. Stem cell transplants usually require a fully matched donor, often a sibling or a matched unrelated donor. In his case, no fully matched donor was available, making the situation more complex.
Given the circumstances, his case was carefully reviewed and discussed by the medical team. After detailed planning, the team, led by Dr Vishnu Hari, Associate Director & Head (Unit I) - Medical Oncology, Haematology & BMT, decided to proceed with a Haploidentical Stem Cell Transplant — an advanced procedure that uses a half-matched donor.
In this case, his sister stepped forward as the donor, becoming a crucial part of his treatment journey. While this approach is more complex than a fully matched transplant, it offers a life-saving option for patients who otherwise may not have a suitable donor.
The transplant was successfully performed under the leadership of Dr. Vishnu Hari, with the support of a highly experienced multidisciplinary team. The procedure required precise coordination, strict infection control, and continuous monitoring to ensure a safe outcome.
Following the transplant, he was closely monitored and supported through his recovery. Today, several months later, his condition has shown remarkable improvement. He is no longer dependent on blood transfusions, has not developed complications such as graft versus host disease (GVHD), and has achieved full donor chimerism, which means the transplanted cells have been fully accepted by his body.
This case has also gained international recognition and has been published in the journal Pediatric Blood & Cancer. To the best of current knowledge, this is the first reported case of a successful Haploidentical Transplant for this rare condition, marking an important milestone in medical science.
X-linked Sideroblastic Anaemia (XLSA) is a rare inherited blood disorder in which the body cannot properly produce healthy red blood cells.
In this condition, the problem lies in heme production (heme is a key component of haemoglobin, the molecule that carries oxygen in blood). Because heme is not formed efficiently, iron cannot be used properly inside red blood cell precursors. Instead, it accumulates in the bone marrow, forming characteristic “ring sideroblasts.”
Since it is X-linked, the condition mainly affects males, while females may be carriers or have milder symptoms.
A stem cell transplant (also called a bone marrow transplant) is a medical procedure that replaces damaged or diseased blood-forming cells with healthy stem cells.
These stem cells are special because they can develop into all types of blood cells, including:
A stem cell transplant is used when the body’s bone marrow is not working properly due to:
The goal is to restore normal blood cell production and, in many cases, provide a long-term cure.
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