Hemojuvelin (HJV)-associated hemochromatosis: analysis of HJV and HFE mutations and iron overload in three families.
Juvenile hemochromatosis is a severe form of hereditary iron overload. It can be caused by mutations in either hepcidin or hemojuvelin genes. In this study we identified the molecular basis of juvenile hemochromatosis in three Australian families and assessed the role of potential modifying genes in individuals carrying HFE mutations.
Wallace
Daniel F
DF
Dixon
Jeannette L
JL
Ramm
Grant A
GA
Anderson
Gregory J
GJ
Powell
Lawrie W
LW
Subramaniam
Nathan
N
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D023181:Antimicrobial Cationic Peptides / Q000378:metabolism; D001315:Australia; D005192:Family Health; D005260:Female; D058851:GPI-Linked Proteins; D006432:Hemochromatosis / Q000378:metabolism*; D000071020:Hemochromatosis Protein; D064451:Hepcidins; D006801:Humans; D019190:Iron Overload; D008297:Male; D008565:Membrane Proteins / Q000378:metabolism*; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree
D023181:Antimicrobial Cationic Peptides; D058851:GPI-Linked Proteins; C578702:HAMP protein, human; C481006:HJV protein, human; D000071020:Hemochromatosis Protein; D064451:Hepcidins; D008565:Membrane Proteins