Youngest pediatric bone marrow transplant: Thalassemia major donor—thalassemia major marked sibling, bone marrow transplantation
J Arockiya Jerlin1, R Abarana2, S Booma3
1,2Staff Nurse, Kauvery Hospital, Maa Kauvery Trichy, Tamil Nadu
3Deputy Nursing Superintendent, Kauvery Hospital, Maa Kauvery Trichy, Tamil Nadu
Abstract
Thalassemia major, also known as Cooley’s anemia, is the most severe form of beta-thalassemia, a genetic blood disorder. It is caused by inherited gene mutations that result in the body producing little to no beta-globin, a protein needed to create functional hemoglobin. Without treatment, severe anemia caused by this condition can be fatal in early childhood.
Key words: Thalassemia major; Stem cell transplant; Beta-thalassemia; Thalassemia minor
Introduction
In a groundbreaking medical achievement, a 2 ½ years old, our youngest known pediatric bone marrow transplant donor, has inspired hope worldwide by demonstrating that even the smallest individuals can make a life-saving impact. The world paused in disbelief and admiration as the youngest donor – a moment that refined courage and illuminated the extraordinary strength that can reside in the smallest hearts.
Causes and inheritance
Thalassemia is an autosomal recessive disorder. For a child to develop thalassemia major, they must inherit a mutated beta-globin gene from each parent., parents who are carriers. If both parents are “carriers” with one mutated gene (thalassemia minor), there is a 25% chance with each pregnancy that their child will inherit two mutated genes and develop thalassemia major.
Genetic mutation: The severity of beta-thalassemia depends on the specific mutation. A beta-zero mutation prevents the production of any beta-globin, while a beta-plus mutation allows for some reduced production. The most severe form, thalassemia major, typically results from inheriting two genes.
Diagnosis
Thalassemia major is often diagnosed in early childhood; as severe symptoms develop early in life.
A diagnosis involves:
Complete blood count (CBC): Reveals anemia with smaller-than-normal red blood cells.
Hemoglobin electrophoresis: A blood test that measures the different types of hemoglobin present. In thalassemia major, there is very little or no adult hemoglobin A (HbA) and high levels of fetal hemoglobin (HbF).
Genetic testing: Can confirm specific gene mutations causing the condition.
Prenatal testing: In families with a known risk, genetic testing can be performed during pregnancy via chorionic villus sampling or amniocentesis.
Treatment
The main goal is to manage anemia and prevent complications from iron overload.
Frequent blood transfusions: The cornerstone of treatment for thalassemia major is regular blood transfusions, often every 2 to 4 weeks, to provide healthy red blood cells.
Iron chelation therapy: Repeated transfusions can lead to a dangerous buildup of iron in the body (iron overload). Chelation therapy uses medication to remove this excess iron and prevent organ damage.
Folic acid supplements: Help the body produce new red blood cells.
Stem cell transplant (bone marrow transplant): The only known cure for thalassemia, though it carries significant risks and requires a compatible donor.
Gene therapy: Newer treatments involving gene therapy are under development.
Complications of thalassemia
Without proper management, thalassemia major can lead to a wide range of severe complications:
Iron overload: Can cause life-threatening damage to the heart, liver, and endocrine glands.
Bone deformities: Expansion of the bone marrow can lead to facial changes, skeletal issues, and brittle bones.
Enlarged spleen (hypersplenism): The spleen works harder to remove damaged red blood cells and may need to be surgically removed. This increases the risk of infection.
Heart problems: Iron overload can lead to irregular heart rhythms and heart failure, which is the leading cause of death among these patients.
Endocrine problems: Damage to hormone-producing glands can cause delayed puberty, diabetes, and thyroid issues.
Increased risk of infection: Patients, especially those who have had their spleen removed, are more susceptible to infections.
Case Presentation
Child was diagnosed to have Thalassemia major during infancy and is on regular transfusion and iron chelation for the past 8 years. No significant pre-transplant illness. Mother underwent MTP during 2nd and 3rd pregnancy in view of prenatal gene testing showing Thalassemia major. 4th and 5th pregnancy were uneventful as the fetuses were unaffected. A 2 ½ years old sister was found to be a full match and hence patient was taken for BMT. Hydroxyurea and Azathioprine were given prior to BMT. Dual oral chelation was also given.
HLA Typing:
- HLA match = 10/10
- Pre BMT evaluation: (For both patient and donor)
- HIV serology – Negative, HBsAg – Negative,
- HCV serology – Negative, CMV IgG – positive
Clinical Findings
- Child alert – Afebrile
- Pulse volume – Good
- Weight: 11.3 kg
- Vitals – Stable
Systemic Examination
Systemic examination was normal.
Transplant Protocol.
| Category | Details |
|---|---|
| Stem cell product | Source: PBSC and cryopreserved umbilical cord blood PBSC |
| Chimerism | PCR |
| SOS prophylaxis | Ursodeoxycholic acid |
| ID prophylaxis | Caspofungin; Syp Acyclovir; Cotrimoxazole (start after engraftment) |
| Others | Anticonvulsant: Syp Levipil; Ulcer prophylaxis: IV Pantoprazole; Antiemetics: Inj. Emeset / Syp Domstal; TLS prophylaxis |
| Transfusion | Packed cells: B positive (irradiated); Platelets & FFP: B/AB positive (irradiated) |
| Monitoring | Cyclosporine level (Mon & Thursday); CMV PCR (SOS); Chimerism |
Preparatory Regimen
| Day | Date | Drugs |
|---|---|---|
| -11 (Before 11 days) | 05/06/2025 | Admission and CVC insertion |
| -10 | 06/06/2025 | Inj. Thymoglobulin |
| -9 | 07/06/2025 | Inj. Thymoglobulin |
| -8 | 08/06/2025 | Inj. Thymoglobulin |
| -7 | 09/06/2025 | Inj. Thiotepa |
| -6 | 10/06/2025 | Inj. Fludarabine; Inj. Treosulfan |
| -5 | 11/06/2025 | Inj. Fludarabine; Inj. Treosulfan |
| -4 | 12/06/2025 | Inj. Fludarabine; Inj. Treosulfan |
| -3 | 13/06/2025 | Inj. Fludarabine |
| -2 | 14/06/2025 | Start Inj. Cyclosporine |
| -1 | 15/06/2025 | Rest |
| 0 | 16/06/2025 | PBSC infusion + UCB infusion |
| +1 | 17/06/2025 | IV Methotrexate; IV Leucovorin rescue (24 h later); Start antifungal & antiviral |
| +3 | 19/06/2025 | IV Methotrexate; IV Leucovorin rescue |
| +6 | 22/06/2025 | IV Methotrexate; IV Leucovorin rescue |
| +11 | 27/06/2025 | IV Methotrexate; IV Leucovorin rescue |
Nursing management of the young donor during stem cell harvest
Goal
Harvesting stem cells from a young donor is a highly sensitive and complex process that requires specialized nursing care throughout every stage. The nursing management focuses not only on clinical safety but also emotional support, family involvement and minimizing physical and psychological trauma for the child
Pre-Procedure Nursing Care
Psychological and emotional preparation:
- Prepared the child and family for the Procedure using age-appropriate communication
- (Play therapy)
- Helped the child to understand what’s happening and to reduce anxiety
- Built the child’s trust through consistency and comfort measures
- Encouraged parental presence during pre-operative procedure.
Medical Preparation
- Ensured informed consent is signed by both the parents after thorough explanation by the medical team
- Preoperative assessments including, Full blood work, Infectious disease screening, Cross matching
- Central line inserted under local anesthesia
- NPO status as per guidelines
- Administration of GCSF (Granulocyte – colony Stimulating Factor for 5days) and monitored closely for side effects that is bone pain, Low grade fever and irritability and provided analgesics accordingly
Intra procedure Nursing care
- Assisted for IV sedation and provided emotional support to the child and parents
- Prepared and kept all emergency equipment
- Fluid replacement as per pediatric intensivist’s advice
- Maintained aseptic technique throughout the procedure
- Monitored vital signs & Hemodynamic status closely throughout the procedure
- Monitored closely for signs of hypocalcemia that is tingling, muscle cramps, irritability and administered calcium gluconate as prescribed appropriately to prevent such symptoms
- Kept the child warm and calm throughout the procedure
Post procedure Nursing care
- Monitored vitals, Bleeding at harvest site, Pain and signs of infection closely and administered analgesics as prescribed by the pediatric intensivist.
- Monitored urine output and the child was hydrated appropriately
- Encouraged parenteral involvement in comforting the child during recovery period
- Provided reassurance and built a sense of safety.
- Started early oral feeds
Discharge Planning of the Donor
Family Educated On;
- Pain management at home
- Signs of infection / Complications
- Follow up appointments
Post BMT Management(Recipient)
Prolonged Diarrhea: Treated with IVIG and supportive therapy. Proper oral and IVF management
Dyselectrolytemia & Fluid status difficulties: Managed by pediatric intensivist consultation and properly monitored intake & output
Chimerism: 100% donor (done twice post BMT)
Mouth Ulcers: Managed with analgesic and anti – inflammatory mouth gel
Dental Caries & Gum Bleeding: Managed conservatively.
Fig (1) Umbilical Cord Stem cell
Nursing Management of Recipient
- Comprehensive assessment & Monitoring
- Close monitoring of vitals and PEWS
- Daily weight and fluid balance to detect early signs of fluid overload or dehydration
- Regular assessment for signs of infection and Graft-versus-host disease (GVHD)
- Monitoring of hematological parameters (Hemoglobin, Platelets, WBC) and organ function
Infection Prevention and control
- Maintained strict neutropenic precautions, that is protective isolation, hand hygiene, visitors ‘restriction, safe nutrition
- Ensure central line care using aseptic technique to prevent CLABSI
- Appropriate administration of antibiotic, anti-fungal and anti-viral
Medication Administration and Monitoring
- Administration of immunosuppressant as ordered, with close monitoring for side effects like renal toxicity
- Timely administration of supportive medication like Anti emetics, Pain relief & growth factors.
- Preparation of medication in chemo hood
Nutrition and Hydration support
- Collaborated with dietitian for individualized nutrition plan (TPN & Oral feed as tolerated)
- Developmental and emotional Support:
- Provided age-appropriate stimulation to support developmental milestones
- Supported bonding with care givers, encouraging skin to skin contact and presence of parents within infection control limits
- Ensured emotional comfort with consistent, gentle care and soothing techniques
Co-ordination of Multi-disciplinary team
Collaborated with physicians, pediatric intensivists, nutritionists to participate in daily rounds care planning to ensure comprehensive patient centered care
Family education and support
Educated the care givers regarding,
- Infection prevention at home, Medication regimen, signs of complications (Fever, GVHD signs) and about vaccination (not to vaccinate without consulting doctor)
- Psychological support offered to reduce anxiety and promote confidence.
Recipient was Discharged on: 30.06.2025.
Conclusion
Big impact from our smallest donor proved that age doesn’t define generosity. Stem cells can rebuild a body, but her gift rebuilt hope. In a world that often waits for age to bring wisdom, she has shown that the heart knows the way even from the very start.
