Heme oxygenase–1 deficiency: The first autopsy case

A Kawashima, Y Oda, A Yachie, S Koizumi, I Nakanishi - Human pathology, 2002 - Elsevier
This article describes the first autopsy case of heme oxygenase (HO)-1 deficiency. A 6-year-
old boy who presented with growth retardation; anemia; leukocytosis; thrombocytosis;
coagulation abnormality; elevated levels of haptoglobin, ferritin, and heme in serum; a low
serum bilirubin concentration; and hyperlipidemia was diagnosed as HO-1 deficient by gene
analysis several months before death. Autopsy showed amyloid deposits in the liver and
adrenal glands and mesangioproliferative glomerular changes in kidneys, in addition to an …