Clinical scenario: pallor | delayed growth | frontal bossing | Hb electrophresis
A 12-year-old boy is evaluated for poor exercise tolerance and delayed growth. He has never required regular blood transfusions. Examination reveals mild pallor, frontal bossing, moderate splenomegaly (4 cm below the left costal margin), and delayed puberty.
Investigations:
- Hemoglobin: 8.2 g/dL
- MCV: 66 fL
- Peripheral smear: Microcytosis, hypochromia, target cells
- Hb electrophoresis:
- HbF 72%
- HbA 24%
- HbA₂ 4%
He remains clinically stable without cardiac failure or severe anemia.
Which of the following is the most appropriate management to reduce ineffective erythropoiesis and delay the need for regular blood transfusions?
A. Deferasirox
B. Hydroxyurea
C. Prednisolone
D. Recombinant erythropoietin
E. Splenectomy
Correct answer & Explanation:
Correct Answer: B. Hydroxyurea
Explanation: Hydroxyurea in thalassemia
The electrophoresis is typical of β-thalassemia intermedia (non-transfusion-dependent thalassemia):
- Significant HbF elevation
- Presence of HbA (unlike thalassemia major, where HbA is absent)
- Moderate chronic anemia
- Child has survived without regular transfusions
In symptomatic patients who are not transfusion dependent, hydroxyurea is the preferred disease-modifying therapy because it:
- Increases HbF production
- Reduces ineffective erythropoiesis
- Improves hemoglobin levels
- Delays or decreases the need for chronic transfusions
Why the other options are incorrect
- A. Deferasirox: Used only when iron overload develops.
- C. Prednisolone: No role in thalassemia.
- D. Recombinant erythropoietin: Not standard therapy.
- E. Splenectomy: Reserved for hypersplenism or excessive transfusion requirements.
High-yield pearl
Exam clue: HbA present + markedly elevated HbF + no lifelong transfusion dependence = β-thalassemia intermedia (NTDT). The best disease-modifying treatment is hydroxyurea, not regular transfusions.
