Hereditary spherocytosis with high fetal hemoglobin: an interesting case

Area of Science:

• Hematology
• Pediatric Hematology
• Red Blood Cell Disorders

Background:

• Elevated fetal hemoglobin (Hb F) is typically associated with stress erythropoiesis in hemolytic anemias.
• Hereditary spherocytosis (HS) can present with mild Hb F elevations (2-5%), but higher levels are uncommon.

Observation:

• A pediatric case initially presented with markedly elevated Hb F (10-20%).
• The patient's Hb F levels showed a spontaneous and progressive decline over time.

Findings:

• The child was diagnosed with hereditary spherocytosis (HS).
• Diagnosis was confirmed using the eosin-5-maleimide flow cytometric test.
• This case represents a rare instance of HS associated with significantly raised Hb F levels.

Implications:

• This finding expands the known spectrum of fetal hemoglobin expression in hereditary spherocytosis.
• Highlights the importance of considering HS in children presenting with unexplained high Hb F.
• Suggests potential utility of monitoring Hb F trends in diagnosing and managing certain red blood cell disorders.