Hemochromatosis 2011
Contents
Summary
Hemochromatosis is the generally used term if the body stores too much iron. There are two different forms with subtypes of hemochromatosis possible: primary and secondary.
Primary hemochromatosis is usually caused by a genetic problem or mutation, resulting in storing too much iron due malfunction at the regulation of the the iron absorption.
Secondary hemochromatosis can be temporarily acquired if a person is affected by chronic alcoholism or received many blood transfusion in a short time.
This entry is about the primary form and especially type 1 of it. It is a hereditary autosomal recessiv genetic disorder caused by a mutation of the HFE-Gene and the breakdown of the regulation of the iron absorption. It was first described by Armand Trousseau in 1865 in a report about diabetes.
Phenotype
Primary Hemochromatosis occurs at different subtypes, each of them caused by a mutation of a important protein. But all of these have in common that an excess of iron is deposited in different organs leading to their malfunction.
Type 1: HFE-Gene -> hfe protein
Type 2A: hemojuvelin
Type 2B: hepcidin
Type 3: transferrin receptor 2
Type 4: ferroportin
Symptoms:
- decoloration/darkening of skin (also known as bronzening)
- weakness
- fatigue
- heart failure
- diabetis
- arthritis (iron in joints)
- loss of weight
- loss of body hair
- loss of sexual energy
- liver cirrhosis
- liver swelling
Diagnosis
ferrinlevel at the blood
Treatment
bloodloss(?) ironless diet
Cross-references
The disesase is also described in detail at
Biochemical disease mechanism
The HFE-Gene alleviates the binding of transferrin which is the carrier protein for iron in the blood cyclus. With a mutated HFE-Gen, the intestines interpret a strong transferrin signal as an deficient in iron. Therefore the cells start to import iron, which leads to an iron overload.
Gene
The HFE (High Iron FE) gene is located on the short arm of the chromosome number 6 at position 6p21.3.
Protein
Hfe-protein
Function
regulation of iron absorption in the body
Cross-references
Links to proteins that are involved in causing the disease
- KEGG at Hemochromatosis
- UniProt at Hemochromatosis Protein (HLA-H)
- UniProt at Hepcidin (HAMP)
- UniProt at (Sero)transferrin (TF)
- UniProt at Transferrin receptor protein 1 (TFR)
- UniProt at Transferrin receptor protein 2 (TF2)
HEF-Gene
Mutations
Current knowledge about mutations associated with the disease. - Separate into disease causing and neutral mutations. -- These sequence pages will be the starting point for collecting prediction results and result discussions.
Reference sequence
Which sequence does not cause the disease and is most often found in the population.
