Thalassemias MCQ — NEET PG Practice Question | NEETPGAI
Thalassemias
medium
microscope Pathology
A 4-year-old boy from Tamil Nadu presents with severe hemolytic anemia (Hb 6.5 g/dL), hepatosplenomegaly, and bone deformities. Peripheral blood smear shows target cells, nucleated RBCs, and polychromasia. Hemoglobin electrophoresis reveals absent HbA and elevated HbF (80%) and HbA2 (18%). The child requires transfusions every 3–4 weeks. His HLA-matched sibling is available. What is the most appropriate next step in management?
A. Refer for allogeneic hematopoietic stem cell transplantation (HSCT)
B. Perform splenectomy to reduce transfusion requirements
C. Start iron chelation therapy with deferasirox
D. Initiate folic acid supplementation and increase transfusion frequency
Explanation
Clinical Context
This is a case of β-thalassemia major (TM) with:
Severe hemolytic anemia requiring regular transfusions
Absent HbA (homozygous β-globin mutation)
Elevated HbF and HbA2 (diagnostic pattern)
Young age (4 years) with an HLA-matched sibling donor
Management Strategy for β-Thalassemia Major
Key Point
The only curative therapy for β-thalassemia major is allogeneic HSCT, particularly when performed early in life with an HLA-matched sibling donor.
HLA-matched sibling: gold standard (80–90% cure rate)
Disease burden
Early transplant (before iron overload, organ damage) improves outcomes
Chelation status
Patients already on iron chelation have worse transplant outcomes
High-YieldNEET PG
The Pesaro risk stratification for β-TM HSCT uses: age, ferritin level, and hepatomegaly. This patient has an excellent window for transplant—young age, available matched sibling, and not yet heavily iron-loaded.
Why This Is the Next Step
1.
Curative potential: HSCT is the only therapy that corrects the underlying genetic defect.
2.
Optimal timing: Age <6 years with matched sibling donor offers >90% disease-free survival.
3.
Prevent complications: Early transplant avoids secondary iron overload, cardiac dysfunction, endocrine failure, and cirrhosis.
4.
Current standard of care: All major guidelines (EBMT, NCCN, Indian hematology societies) recommend HSCT as first-line curative therapy in this scenario.
Clinical Pearl
Delaying HSCT to initiate chelation therapy is counterproductive—iron overload itself worsens transplant outcomes and increases transplant-related mortality.
Post-HSCT Monitoring
Engraftment assessment (day +14–28)
Chimerism studies
GVHD prophylaxis and monitoring
Immune reconstitution assessment
Robbins 10e Ch 14
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