ILLUSTRATIONS TO HEMOCHROMATOSIS
 
 
Radiology:
 
CT scan of the liver. The liver is almost as dense as the vertebral body due to iron deposition  CT scan of the heart. Again, the heart muscle is very dense (almost white); this is again due to iron deposition
Taken from S. Niwano et al. (1998). Circulation 97: 2371
 
Histology
 
Connective tissue stain of liver showing scarring, nodular transformation and pigment deposition. Iron stain of the same section. The blue color is iron: this liver is markedly overloaded with iron.
 
The gene product of HFE
 
HFE is a protein of the HLA superfamily. It interacts with transferrin and thereby regulates iron absorption. The mutation C282Y occurs in the b-microglobulin binding domain. This leads to missorting in the cell and inability to react with the transferrin receptor: iron is absorbed regardless of the iron status of the organism and iron overload ensues. The importance of the other major mutation, H63D is still debated.
 
 
 
 
 
August 25th 1998