Clinical Scenario:
A 12-year-old boy with transfusion-dependent β-thalassemia major presents with recurrent episodes of epistaxis for the past week. He has been receiving regular blood transfusions since infancy. On examination, he is pale and has a massively enlarged spleen extending 10 cm below the left costal margin. There is no fever or lymphadenopathy.
Laboratory investigations reveal:
- Hemoglobin: 7.5 g/dL
- Total leukocyte count: 2.8 × 10⁹/L
- Platelet count: 48 × 10⁹/L
What is the most likely cause of his pancytopenia?
A. Acute leukemia
B. Aplastic anemia
C. Hypersplenism
D. Iron overload
E. Viral bone marrow suppression
Correct answer & Explanation:
Correct Answer: C. Hypersplenism
Explanation
This child has hypersplenism, a well-recognized complication of transfusion-dependent β-thalassemia major. Chronic extramedullary hematopoiesis and increased destruction of abnormal red blood cells lead to progressive splenic enlargement. An enlarged spleen sequesters and destroys red blood cells, white blood cells, and platelets, resulting in pancytopenia.
The presence of:
- Massive splenomegaly
- Anemia
- Leukopenia
- Thrombocytopenia causing epistaxis
strongly suggests hypersplenism.
Why the other options are incorrect
A. Acute leukemia
May cause pancytopenia but is usually associated with fever, bone pain, lymphadenopathy, hepatosplenomegaly, and circulating blasts. Massive splenomegaly in a known thalassemia patient favors hypersplenism.
B. Aplastic anemia
Causes pancytopenia but is characterized by a hypocellular bone marrow and does not cause splenomegaly.
C. Hypersplenism
Correct. Massive splenomegaly with pancytopenia in a child with transfusion-dependent β-thalassemia major is characteristic of hypersplenism.
D. Iron overload
Iron overload affects organs such as the heart, liver, and endocrine glands but does not directly cause pancytopenia.
E. Viral bone marrow suppression
May produce transient pancytopenia but is not associated with longstanding massive splenomegaly.
Learning Point
Hypersplenism should be suspected in children with β-thalassemia major who develop:
- Progressive splenomegaly
- Increased transfusion requirements
- Leukopenia and thrombocytopenia
- Recurrent bleeding or infections
Hypersplenism with clinically significant anemia, leukopenia, or thrombocytopenia is one of the situations in which splenectomy may be considered. However, current guidelines recommend a cautious, individualized approach because splenectomy increases the risk of infection, thrombosis, and pulmonary hypertension.
References
- Thalassaemia International Federation. Other complications: Splenomegaly and splenectomy. In: Guidelines for the Management of Transfusion-Dependent β-Thalassaemia. 5th ed. Nicosia: Thalassaemia International Federation; 2025.
You can also practice another MCQ on sickle cell disease.
