Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hemochromatosis

Hemochromatosis is a disorder of iron metabolism causes by insufficient excretion of surplus iron which results in iron overload. Most susceptible organs are the liver that can develop cirrhosis and pancreas in which a diabetes may be caused.

Management

As the automatic regulation of iron storage is disturbed this has to be controlled manually by regular iron measurements and phlebotomy.

Systematic

Hereditary liver disease
Aceruloplasminemia/Hypoceruloplasminemia
Budd-Chiari syndrome
Caroli disease
Fabry disease
Genetic hyperbilirubinemia
Hemochromatosis
Hemochromatosis 1
BMP2
HFE
Hemochromatosis 2a
HFE2
Hemochromatosis 2b
HAMP
Hemochromatosis 3
TFR2
Hemochromatosis 4
SLC40A1
Hemochromatosis 5
FTH1
Hepatitis B susceptibility
Hepatocellular carcinoma
Ivemark syndrome
Polycystic liver disease

References:

1.

Camaschella C et al. (2000) The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22.

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2.

Griffiths W et al. (2000) Haemochromatosis: novel gene discovery and the molecular pathophysiology of iron metabolism.

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3.

Montosi G et al. (2001) Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene.

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4.

Fleming RE et al. (2001) Hepcidin: a putative iron-regulatory hormone relevant to hereditary hemochromatosis and the anemia of chronic disease.

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5.

Orphanet article

Orphanet ID 139491 [^]
6.

Wikipedia article

Wikipedia EN (Iron_overload) [^]
Update: April 29, 2019