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Human Heme Oxygenase-1 Deficiency Presenting With Hemolysis, Nephritis, and Asplenia

Radhakrishnan, Nita DCH, MD*; Yadav, Satya Prakash DCH, DNB*; Sachdeva, Anupam DCH, MD*; Pruthi, Praveen K. MD, DNB; Sawhney, Sujata MD, MRCP, CCST; Piplani, Tarun DNB§; Wada, Taizo MD, PhD; Yachie, Akihiro MD, PhD

Journal of Pediatric Hematology/Oncology: January 2011 - Volume 33 - Issue 1 - p 74–78
doi: 10.1097/MPH.0b013e3181fd2aae
Clinical and Laboratory Observations

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.

*Department of Pediatrics, Pediatric Hematology Oncology and BMT Unit

Department of Pediatrics, Pediatric Nephrology Unit

Department of Pediatrics, Pediatric Rheumatology Unit, Centre for Child Health

§Department of CT Scan and MRI, Sir Ganga Ram Hospital, New Delhi, India

Department of Pediatrics, School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, Kanazawa, Japan

Reprints: Satya Prakash Yadav, DCH, DNB, Department of Pediatrics, Pediatric Hematology Oncology and BMT Unit, Sir Ganga Ram Hospital, Old Rajinder Nagar, New Delhi, India 110060 (e-mail:

Received April 3, 2010

Accepted July 1, 2010

© 2011 Lippincott Williams & Wilkins, Inc.