Contiguous gene deletion in HFE2 region (1q21. 1) and pathogenic HFE2 mutations in a Chinese hereditary hemochromatosis patient

Y Wang, Y Du, G Liu, S Guo, N Yang, B Hou, X Jiang… - Gene Reports, 2016 - Elsevier
Juvenile hemochromatosis is caused by the defects of HFE2 gene, located on chromosome
1q with clinical manifestations of iron overload and affected organ damage before …

A novel homozygous frameshift deletion c.471del of HFE associated with hemochromatosis

M Cukjati, S Koren, V Čurin Šerbec… - Clinical …, 2007 - Wiley Online Library
A 47‐year‐old white male patient who manifested biochemical evidence of iron overload
was found not to be a carrier of the three most common mutations, C282Y, H63D and S65C …

Compound heterozygote (C282Y/H63D) of hereditary hemochromatosis in a 16-year-old girl with hypoplastic kidney

B Kaczorowska-Hac, K Sikorska, KP Bielawski… - International journal of …, 2007 - Springer
Iron-overload diseases are associated with primary or secondary disturbances of iron
metabolism. Hereditary hemochromatosis, a genetically heterogeneous disease that is …

[PDF][PDF] The first Dutch family with juvenile Hemochromatosis caused by a Gly320Val mutation in the HFE2 gene

AP Abbes, C Klomp, J Lambert, H Engel - … TIJDSCHRIFT VOOR KLINISCHE …, 2005 - nvkc.nl
Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism
resulting in accumulation of excess iron. The excess iron is deposited in a variety of organs …

[HTML][HTML] HFE-related hemochromatosis in a Chinese patient: the first reported case

W Zhang, X Wang, W Duan, A Xu, X Zhao… - Frontiers in …, 2020 - frontiersin.org
HFE-related Hemochromatosis is the most common genetic iron overload disease in
European populations, particularly of Nordic or Celtic ancestry. It is reported that the HFE p …

[HTML][HTML] Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene

A Pietrangelo, G Montosi, A Totaro… - … England Journal of …, 1999 - Mass Medical Soc
Background and Methods Hereditary hemochromatosis in adults is usually characterized by
mutations in the hemochromatosis (HFE) gene on the short arm of chromosome 6. Most …

Polymorphisms in the HFE gene

V Douabin, R Moirand, AM Jouanolle, P Brissot… - Human …, 1999 - karger.com
Hereditary hemochromatosis is an autosomal recessive disease characterized by
progressive iron overload. Recently, a candidate gene named HFE was isolated on the short …

SNP and haplotype analysis reveals new HFE variants associated with iron overload trait

Y Yang, C Ferec, C Mura - Human mutation, 2011 - Wiley Online Library
Hereditary hemochromatosis is a common‐recessive‐autosomal disease characterized by
progressive iron overload, and its prevalence correlates with c. 845G> A (p. C282Y) …

[PDF][PDF] HFE gene mutation, C282Y causing hereditary hemochromatosis in Caucasian is extremely rare in Korean population

JY Lee, KH Yoo, SH Hahn - J Korean Med Sci, 2000 - jkms.org
Hereditary hemochromatosis (HFE) is an autosomal recessive iron storage disease
associated with widespread tissue injury leading to liver cirrhosis, hepatoma, diabetes …

Abnormal regulation of HFE mRNA expression does not contribute to primary iron overload

E Vercesi, P Cerani, V Rolandi, A Rovati… - …, 2000 - haematologica.org
BACKGROUND AND OBJECTIVES: Hereditary hemochromatosis (HHC) is a common,
recessively inherited, genetic disorder associated with an abnormality of the HFE gene …