A rare case of heme oxygenase deficiency: A case report and literature review

Abstract

Key Clinical Message Heme oxygenase deficiency, a rare condition disrupting heme metabolism, has only nine reported cases. We present a 3‐year‐old boy with dysmorphic facies, asplenia, and normal bilirubin levels despite ongoing hemolysis. Blood transfusions sustained hemoglobin while IV steroids managed inflammation.

Keywords

• asplenia
• bilirubin synthesis
• heme oxygenase deficiency
• HMOX1 gene