How An Unrelated Stem Cell Donor Saved The Life Of 12-Year-Old Thalassaemia Patient

Thalassaemia, a hereditary blood disorder characterised by defective haemoglobin production, remains a significant public health challenge in India. According to peer-reviewed studies, India bears a substantial burden of thalassaemia carriers and affected individuals. 

Twelve-year-old Pratham from Bikaner, diagnosed with thalassaemia at six months, has been cured following a successful blood stem cell transplant from a matched unrelated donor (MUD). After years of distressing transfusions, a life-saving match was found via DKMS Foundation India.

The donor, 35-year-old Rohit from Kanpur, a pharmaceutical management consultant, was moved to act after watching the film The Sky is Pink, which portrays a family’s struggle with a life-threatening illness. The film's end credits mentioned DKMS, prompting Rohit to register online as a potential donor. He ordered a home swab kit, collected cheek cell samples, and submitted them for HLA testing. Eight months later, he was identified as Pratham’s perfect match.

Rohit’s actions saved the life and the quality of life for the recipient thalassaemia survivor Pratham. But this is not the norm always, and Rohit’s act is rather an exception that needs to be lauded.

"For many patients without a matching sibling, a matched unrelated donor (MUD) transplant becomes their only lifeline. The challenge, however, lies in finding that one-in-a-million match,” explained Dr  Esha Kaul, Director – Haematology, Hemato-Oncology, BMT, from Max Super Specialty Hospital, Vaishali.

Highlighting how stem cell transplant was the only curative option, Dr Vikram Mathews, Director, CMC; Professor of Haematology, Department of Haematology Christian Medical College, Vellore, who had treated Pratham since the early stages, said: “His story is a powerful reminder that thalassaemia can be effectively managed with early diagnosis and the proper medical interventions.”

What Is Thalassaemia?

Thalassaemia is a genetic blood disorder that impairs haemoglobin production, requiring regular transfusions unless cured via transplantation. 

The estimated carrier frequency varies across regions, with higher prevalence reported in certain communities, notably among northern, central, and parts of southern India. The clusters with higher prevalence often include tribal groups, Punjabis, Gujaratis, and populations in regions community with a high degree of consanguinity, which increases the risk of inheriting the disorder.

India sees over 10,000 new cases each year, but donor availability — especially from Indian ethnic backgrounds — remains low.

DKMS India’s Access to Transplantation programme supports families with free HLA typing and financial aid. Pratham’s recovery highlights the critical impact of donor registration in saving lives.

"DKMS Foundation India’s Access to Transplantation (ATT) Program is working to bridge the gap in affordability and accessibility that too often stands between patients and curative treatment. From offering free HLA typing for thalassaemia patients to providing financial support through our Patient Funding Program, we’re addressing key barriers families face in their transplant journey,” said Patrick Paul, Chairman, DKMS India.

Thalassaemia Treatment And Management In India

Thalassaemia is a treatable genetic disorder, but it requires comprehensive medical management. The cornerstone of treatment is regular red blood cell transfusions, which help maintain adequate haemoglobin levels. 

Why mere blood transfusions are an unviable option

Transfusions can lead to iron overload, necessitating iron chelation therapy for effective management. Allogeneic hematopoietic stem cell transplantation (HSCT) offers a potential cure, but its availability is limited due to high costs and the need for well-equipped facilities.

Stem cell donation and transplant 

Stem cell transplantation, also known as haematopoietic stem cell transplantation (HSCT), offers a potential cure for patients with thalassaemia, particularly severe forms such as beta-thalassaemia major. This procedure involves replacing the defective blood-forming stem cells in the patient’s bone marrow with healthy stem cells derived from a compatible donor, typically a sibling or, in some cases, a matched unrelated donor.

How Does Stem Cell Transplant Help?

In a successful transplant, the healthy stem cells engraft in the recipient’s bone marrow and begin producing normal, functional haemoglobin. This can eliminate the need for lifelong blood transfusions and iron chelation therapy, effectively curing the disease. The procedure’s success relies on the availability of a suitable donor and the patient’s overall health and age at the time of transplantation.

Optimal Age For Stem Cell Treatment

The optimal window for stem cell transplantation is generally before the onset of severe complications, typically in children aged between 1 and 10 years. Early intervention maximises the chances of engraftment and reduces transplant-related risks, such as graft-versus-host disease (GVHD). Nevertheless, adults and adolescents can also benefit from transplantation, although the risk profile may be higher.

What Happens If Treatment Is Delayed Or Skipped?

When timely treatment is not administered, it leads to the following eventualities:

• Progression of Disease: Patients often experience frequent, debilitating blood transfusions, leading to iron overload, organ damage (heart, liver, endocrine glands), and growth retardation in children.
• Reduced Quality of Life: Persistent fatigue, weakness, and hospital visits significantly impact daily activities, education, and social interactions for the patient.
• Burden on Caregivers and Families: Family members often bear the emotional and financial strain of ongoing treatment, frequent hospital visits, and managing complications.
• Prognosis: Without intervention, severe thalassaemia can lead to life-threatening complications, reduced life expectancy, and diminished quality of life.

When performed early, stem cell transplantation can provide a definitive cure, restore normal health, and dramatically improve quality of life. However, its realisation depends on early diagnosis, available donor matches, and access to specialised treatment centres. Promoting early screening and awareness initiatives is vital to enable timely interventions and reduce the long-term impact of this hereditary disorder.

Kirti Pandey is a senior independent journalist.

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