Question

A child presents with recurrent chest infections and abdominal pain. There is a history of 1 blood transfusion in the past. On examination, he had icterus and mild splenomegaly. Electrophoresis shows increased HbA2, HbF, and S spike. What is the likely diagnosis?

• A. Beta thalassemia
• B. HbC disease
• C. Sickle cell disease
• D. Acute coronary disease

Answer 1

The Correct Option is A

The child in the scenario is experiencing recurrent chest infections and abdominal pain with a prior history of blood transfusion. Examination reveals icterus (jaundice) and mild splenomegaly. The electrophoresis results show increased levels of HbA2, HbF, and a S spike.

These clinical features and electrophoresis findings are indicative of Beta thalassemia. Let's break down the important elements:

• Recurrent chest infections: Often occur in individuals with hemolytic anemias, like thalassemias, due to associated immunological deficiencies or anatomical issues stemming from bone marrow expansion.
• Abdominal Pain: This can be due to an enlarged spleen (splenomegaly) which is common in hemolytic anemias as the spleen works hard to remove defective RBCs.
• Icterus: Points to hemolytic anemia, where increased bilirubin levels result from excessive breakdown of RBCs.
• Increased HbA2 and HbF: Characteristic of Beta thalassemia. HbA2 elevation is a classical marker used in screening beta thalassemia. HbF is also increased due to a compensatory mechanism.
• S Spike: Suggestive of the presence of sickle hemoglobin, which can occur in thalassemia patients with genetic variability or a combined syndrome.

Based on these factors, the coherent diagnosis that fits the comprehensive profile—recurrent infections, abdominal pain, past blood transfusion, and specific electrophoresis results—is Beta thalassemia.