Lack of association of primary iron overload and common HFE gene mutations with liver cirrhosis in adult Indian population

2011 ◽  
Vol 30 (4) ◽  
pp. 161-165 ◽  
Author(s):  
Shalu Jain ◽  
Sarita Agarwal ◽  
Parag Tamhankar ◽  
Prashant Verma ◽  
Gourdas Choudhuri
Keyword(s):  
Liver Cirrhosis ◽  
Iron Overload ◽  
Indian Population ◽  
Gene Mutations ◽  
Hfe Gene ◽  
Hfe Gene Mutations

Iron overload and HFE gene mutations in Polish patients with liver cirrhosis

2011 ◽  
Vol 10 (3) ◽  
pp. 270-275 ◽  
Author(s):  
Katarzyna Sikorska ◽  
Tomasz Romanowski ◽  
Piotr Stalke ◽  
Ewa Iżycka-Świeszewska ◽  
Krzysztof Piotr Bielawski
Keyword(s):  
Liver Cirrhosis ◽  
Iron Overload ◽  
Gene Mutations ◽  
Hfe Gene ◽  
Hfe Gene Mutations

scholarly journals HFE Gene Mutations, Iron Overload and Cryptogenic Liver Cirrhosis

2012 ◽  
Vol 12 (3) ◽  
pp. 209-210
Author(s):  
Christoph Eisenbach
Keyword(s):  
Liver Cirrhosis ◽  
Iron Overload ◽  
Gene Mutations ◽  
Hfe Gene ◽  
Hfe Gene Mutations

scholarly journals HFE Gene Mutations, Iron Overload and Cryptogenic Liver Cirrhosis

2012 ◽  
Vol 12 (3) ◽  
pp. 209-210
Author(s):  
Christoph Eisenbach
Keyword(s):  
Liver Cirrhosis ◽  
Iron Overload ◽  
Gene Mutations ◽  
Hfe Gene ◽  
Hfe Gene Mutations

Dysmetabolic iron overload syndrome and its relationship with HFE gene mutations and with liver steatosis

2020 ◽  
Vol 52 (6) ◽  
pp. 683-685
Author(s):  
Agustín Castiella ◽  
Iratxe Urreta ◽  
Eva Zapata ◽  
MªDolores de Juan ◽  
José Mª Alústiza ◽  
...  
Keyword(s):  
Iron Overload ◽  
Liver Steatosis ◽  
Gene Mutations ◽  
Hfe Gene ◽  
Hfe Gene Mutations

HFE gene mutations in liver cirrhosis and hepatocellular carcinoma

2000 ◽  
Vol 32 ◽  
pp. 154
Author(s):  
G. Sebastiani ◽  
L. Benvegnù ◽  
P. Angeli ◽  
P. Pontisso ◽  
A. Gatta ◽  
...  
Keyword(s):  
Hepatocellular Carcinoma ◽  
Liver Cirrhosis ◽  
Gene Mutations ◽  
Hfe Gene ◽  
Hfe Gene Mutations

scholarly journals The Hereditary Hyperferritinemia-Cataract Syndrome in 2 Italian Families

2013 ◽  
Vol 2013 ◽  
pp. 1-4
Author(s):  
Katia Perruccio ◽  
Francesco Arcioni ◽  
Carla Cerri ◽  
Roberta La Starza ◽  
Donatella Romanelli ◽  
...  
Keyword(s):  
Iron Overload ◽  
Light Chain ◽  
Gene Mutations ◽  
Hfe Gene ◽  
Genetic Investigation ◽  
Response Element ◽  
Bilateral Cataract ◽  
H63d Mutation ◽  
Iron Response Element ◽  
Hfe Gene Mutations

Two 8- and 9-year-old brothers were referred to the Pediatric Oncology Unit, Perugia General Hospital, because of hyperferritinemia. Both had a history of bilateral cataract and epilepsy. Genetic investigation revealed two distinct mutations in iron haemostasis genes; homozygosity for the HFE gene H63D mutation in the younger and heterozygosity in the elder. Both displayed heterozygosity for C33T mutation in the ferritin light chain iron response element. A 7-year-old boy from another family was referred to our unit because of hyperferritinemia. Genetic analyses did not reveal HFE gene mutations. Family history showed that his mother was also affected by hyperferritinemia without HFE gene mutations. Magnetic resonance imaging in the mother was positive for iron overload in the spleen. Cataract was diagnosed in mother and child. Further genetic investigation revealed the C29G mutation of the ferritin light chain iron response element. C33T and C29G mutations in the ferritin light chain iron response element underlie the Hereditary Hyperferritinemia-Cataract Syndrome (HHCS). The HFE gene H63D mutation underlies Hereditary Haemochromatosis (HH), which needs treatment to prevent organ damages by iron overload. HHCS was definitively diagnosed in all three children. HHCS is an autosomal dominant disease characterized by increased L-ferritin production. L-Ferritin aggregates accumulate preferentially in the lens, provoking bilateral cataract since childhood, as unique known organ damage. Epilepsy in one case and the spleen iron overload in another could suggest the misleading diagnosis of HH. Consequently, the differential diagnosis between alterations of iron storage system was essential, particularly in children, and required further genetic investigation.

Primary iron overload and HFE gene mutations in North Indian adults

2012 ◽  
Vol 31 (1) ◽  
pp. 36-37
Author(s):  
Prachi S. Patil ◽  
K. M. Mohandas
Keyword(s):  
Iron Overload ◽  
Gene Mutations ◽  
Hfe Gene ◽  
Hfe Gene Mutations
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