Heme oxygenase-1 deficiency
Synonyms: HO-1 deficiency
A rare inborn error of metabolism characterized by congenital asplenia and childhood or adolescent onset of generalized inflammation persistent intravascular hemolysis and anemia severe endothelial injury with abnormal coagulation bleeding diathesis and nephropathy. Additional reported manifestations include growth retardation mild facial dysmorphism and hepatomegaly.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024
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Heme oxygenase-1 deficiency?
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