Question

A 14-year-old boy presents with fatigue, mild jaundice, and splenomegaly. His hemoglobin is 10.5 g/dL, MCV is 82 fL, and MCHC is high at 37 g/dL. His father had a similar history of chronic anemia and underwent splenectomy. What is the most likely diagnosis?

• A. Autoimmune hemolytic anemia
• B. Hereditary spherocytosis
• C. Thalassemia minor
• D. G6PD deficiency

Hint:

Hereditary spherocytosis commonly shows high MCHC, jaundice, splenomegaly and family history.

Answer 1

The Correct Option is B

Step 1: Understanding the Question:
This case presents a triad of hemolytic anemia symptoms: anemia, jaundice, and splenomegaly. The high MCHC and a strong family history of similar issues requiring splenectomy are the key diagnostic clues.
Step 2: Detailed Explanation:

Hereditary Spherocytosis (HS): This is an autosomal dominant disorder caused by defects in RBC membrane proteins (like spectrin or ankyrin). This results in loss of membrane and the formation of spherical RBCs (spherocytes) which are trapped and destroyed in the spleen.

Laboratory Markers:
- High MCHC (Mean Corpuscular Hemoglobin Concentration): Values > 36 g/dL are highly suggestive of HS. This occurs due to mild cellular dehydration as the cell loses membrane surface area. HS is almost the only condition that causes a high MCHC.
- MCV: Usually normal or slightly low (82 fL is normal).

Family History: The dominant inheritance pattern and the clinical response to splenectomy (which prevents further destruction of spherocytes) in the father are classic for HS.

Differentiation:
- AIHA (A): Also shows spherocytes, but MCHC is usually not as consistently high, and there's no strong hereditary pattern.
- Thalassemia (C): Shows microcytosis (very low MCV) and target cells, not spherocytes.
- G6PD (D): Episodic hemolysis following triggers, showing bite cells and Heinz bodies.

Step 3: Final Answer:
The high MCHC and positive family history of splenectomy for anemia make Hereditary Spherocytosis the most likely diagnosis.