title: Liver cirrhosis as a consequence of iron overload caused by hereditary nonspherocytic hemolytic anemia.
abstract: 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.
authors.affiliation: Universitatsklinikum Essen, Klinik fur Gastroenterologie and Hepatologie, Hufelandstrabe 55, 45122 Essen, Germany. philip.hilgard@uni-essen.de
authors.forename: Philip
authors.initials: P
authors.lastname: Hilgard
authors.forename: Guido
authors.initials: G
authors.lastname: Gerken
mesh_terms: D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000150:complications*; D006801:Humans; D019190:Iron Overload / Q000150:complications* / Q000209:etiology*; D008103:Liver Cirrhosis / Q000209:etiology*; D008297:Male; D008875:Middle Aged; D011770:Pyruvate Kinase / Q000172:deficiency
chemical_list: D011770:Pyruvate Kinase