BOF: General (Iron)

Several gene mutations have been shown to have associations with iron overload syndrome. Of the following five genes, which one has NOT had a mutation described which is associated with a form of hereditary haemochromatosis?

a) FTH1 (ferritin heavy polypeptide 1)

b) HAMP (hepicidin antimicrobial peptide)

c) HJV (haemojuvelin)

d) SLC40A1 (Solute carrier family 40 Member 1 / Ferroportin)

e) TFR2 (transferrin receptor 2)

Answer:

a) FTH1 (ferritin heavy polypeptide 1)

Explanation:

Hereditary haemochromatosis is most commonly caused by a mutation in the gene HFE coding for a transferrin receptor associated protein. Severe forms of juvenile-onset haemochromatosis may arise from mutations in HJV or HAMP, coding for key proteins involved in iron transport and metabolism, acting through the iron transport master regulator hepicidin. Mutations in ferroportin, the hepcidin-regulated iron transporter responsible for export of iron from macrophages and enterocytes, as well as transferrin receptor, responsible for iron uptake, have also been found associated with iron overload syndromes. Mutations in genes for ferritin have been found in neurodegenerative disease but not iron overloading

Reference:

Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases. Hepatology 2011; 54:328.