Coinheritance of hereditary spherocytosis and reversibility of cirrhosis in a young female patient with hereditary hemochromatosis.
Here we report a 33-years-old woman with hereditary spherocytosis and hemochromatosis due to homozygosity for the C282Y mutation of the HFE gene. The coinheritance of both conditions led to severe iron overload and liver cirrhosis at young age. The patient was treated by repeated phlebotomy, and reversibility of cirrhosis was documented by transient elastography. This report discusses the pathophysiology of iron accumulation in patients with hemolytic anemia combined with HFE C282Y homozygosity. The case indicates that patients with hematological disorders characterized by increased erythropoetic activity should be screened for HFE mutations.
Höblinger
A
A
Department of Internal Medicine I, University Hospital Bonn, University of Bonn, Sigmund Freud Str. 25, 53105 Bonn, Germany. aksana.hoeblinger@ukb.uni-bonn.de
Erdmann
C
C
Strassburg
C P
CP
Sauerbruch
T
T
Lammert
F
F
D000328:Adult; D005260:Female; D006432:Hemochromatosis / Q000235:genetics* / Q000473:pathology; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006720:Homozygote; D006801:Humans; D019190:Iron Overload / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D008103:Liver Cirrhosis / Q000473:pathology / Q000503:physiopathology / Q000628:therapy*; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation; D018962:Phlebotomy / Q000379:methods; D020127:Recovery of Function; D013103:Spherocytosis, Hereditary / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D016896:Treatment Outcome
C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins