Aceruloplasminemia - a Genetic Iron Storage Disease

2002 ◽  
Vol 40 (6) ◽  
pp. 479-481
Author(s):  
K W Ocran ◽  
H H.-J Schmidt
Keyword(s):  
Storage Disease ◽  
Iron Storage

AVIAN IRON STORAGE DISEASE: VARIATIONS ON A COMMON THEME?

2012 ◽  
Vol 43 (3s) ◽  
pp. S27-S34 ◽  
Author(s):  
Kirk C. Klasing ◽  
Ellen S. Dierenfeld ◽  
Elizabeth A. Koutsos
Keyword(s):  
Storage Disease ◽  
Common Theme ◽  
Iron Storage

Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin

Blood ◽  
2004 ◽  
Vol 103 (12) ◽  
pp. 4669-4671 ◽  
Author(s):  
Pauline L. Lee ◽  
Ernest Beutler ◽  
Sreenivas V. Rao ◽  
James C. Barton
Keyword(s):  
Early Onset ◽  
Storage Disease ◽  
Causative Gene ◽  
Gene Encoding ◽  
Iron Storage ◽  
Hypogonadotrophic Hypogonadism ◽  
Juvenile Hemochromatosis ◽  
Genetic Abnormalities

AbstractJuvenile hemochromatosis is an early-onset form of iron storage disease characterized by hypogonadotrophic hypogonadism and cardiomyopathy. Recently, the putative causative gene (LOC148738) encoding a protein designated hemojuvelin was cloned. The previously proposed designation of this gene as HFE2 is contrary to established convention, because it is not a member of the HFE family. We suggest that it be designated HJV. We sequenced this gene in members of 2 previously reported kinships that manifest typical juvenile hemochromatosis. In one kinship, 2 previously undescribed mutations of HJV were identified, c.238T>C (C80R) and c.302T>C (L101P). In the second kinship, 2 previously identified mutations, G320V and I222N, were found. These studies confirm that mutations in HJV cause juvenile hemochromatosis. (Blood. 2004;103:4669-4671)

Iron Storage Disease in Red Deer (Cervus elaphus elaphus) is not associated with Mutations in the HFE Gene

2011 ◽  
Vol 145 (2-3) ◽  
pp. 207-213 ◽  
Author(s):  
P. Olias ◽  
A.Th.A. Weiss ◽  
A.D. Gruber ◽  
R. Klopfleisch
Keyword(s):  
Cervus Elaphus ◽  
Red Deer ◽  
Storage Disease ◽  
Hfe Gene ◽  
Iron Storage

Iron storage disease in Asia-Pacific populations: The importance of non-HFE mutations

2013 ◽  
Vol 28 (7) ◽  
pp. 1087-1094 ◽  
Author(s):  
Cameron J McDonald ◽  
Daniel F Wallace ◽  
Darrell H G Crawford ◽  
V Nathan Subramaniam
Keyword(s):  
Storage Disease ◽  
Asia Pacific ◽  
Iron Storage ◽  
Hfe Mutations
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