title: Human heme oxygenase-1 deficiency presenting with hemolysis, nephritis, and asplenia.
abstract: Heme oxygenase-1 (HO-1) is a stress-induced enzyme that catalyses the oxidation of heme to biliverdin. The primary deficiency of this enzyme has been shown in HO-1 knockout mice, and is characterized by intrauterine death and chronic inflammation. The first case of human HO-1 deficiency was reported in 1999. Human HO-1 deficiency has been observed to involve the endothelial cells more severely, resulting in hemolysis and disseminated intravascular coagulation. We report another case of human HO-1 deficiency in a young girl with congenital asplenia, who presented with severe hemolysis, inflammation, nephritis, which was refractory to therapy with corticosteroids, cyclophosphamide, and rituximab.
authors.affiliation: Department of Pediatrics, Pediatric Hematology Oncology and BMT Unit, Sir Ganga Ram Hospital, New Delhi, India.
authors.forename: Nita
authors.initials: N
authors.lastname: Radhakrishnan
authors.forename: Satya Prakash
authors.initials: SP
authors.lastname: Yadav
authors.forename: Anupam
authors.initials: A
authors.lastname: Sachdeva
authors.forename: Praveen K
authors.initials: PK
authors.lastname: Pruthi
authors.forename: Sujata
authors.initials: S
authors.lastname: Sawhney
authors.forename: Tarun
authors.initials: T
authors.lastname: Piplani
authors.forename: Taizo
authors.initials: T
authors.lastname: Wada
authors.forename: Akihiro
authors.initials: A
authors.lastname: Yachie
mesh_terms: D000293:Adolescent; D005260:Female; D051547:Heme Oxygenase-1 / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism; D006461:Hemolysis; D006801:Humans; D007249:Inflammation; D009154:Mutation; D009393:Nephritis / Q000235:genetics / Q000473:pathology*; D013154:Spleen / Q000002:abnormalities* / Q000473:pathology*
chemical_list: D051547:Heme Oxygenase-1