Case Report
Copyright ©2005 Baishideng Publishing Group Inc. All rights reserved.
World J Gastroenterol. Feb 28, 2005; 11(8): 1241-1244
Published online Feb 28, 2005. doi: 10.3748/wjg.v11.i8.1241
Liver cirrhosis as a consequence of iron overload caused by hereditary nonspherocytic hemolytic anemia
Philip Hilgard, Guido Gerken
Philip Hilgard, Guido Gerken, Department of Gastroenterology and Hepatology, University Hospital Essen, Essen, Germany
Author contributions: All authors contributed equally to the work.
Correspondence to: Dr. Philip Hilgard, Universitätsklinikum Essen, Klinik für Gastroenterologie and Hepatologie, Hufelandstraße 55, 45122 Essen, Germany.
Telephone: +49-201-723-2390 Fax: +49-201-723-5971
Received: May 10, 2004
Revised: May 12, 2004
Accepted: August 12, 2004
Published online: February 28, 2005

Nonspherocytic hereditary anemias are occasionally accompanied by significant iron overload but the significance for the development of chronic liver disease is not clear. We described two cases of patients with chronic liver disease and severe iron overload due to chronic hereditary hemolysis. Both patients have had signs of liver cirrhosis and severe hemolysis since childhood. A hereditary pyruvate kinase deficiency (PKD) was discovered as the underlying reason for the hemolysis. Sequencing of the pyruvate kinase gene showed a mutation within exon 11. Liver histology in both patients revealed cirrhosis and a severe iron overload but primary hemochromatosis was excluded by HFE-gene analysis. An iron reduction therapy with desferrioxamine led to significant decrease of serum ferritin and sustained clinical improvement. PKD-induced hemolysis may cause severe iron overload even in the absence of HFE-genotype abnormalities. This secondary iron overload can lead to chronic liver disease and cirrhosis. Therefore, the iron metabolism of PKD patients has to be closely monitored and iron overload should be consequently treated.

Keywords: Hemochromatosis, Pyruvate kinase deficiency, Liver cirrhosis, Iron overload, Desferrioxamine