Genotypic and phenotypic spectra of hemojuvelin mutations in primary hemochromatosis patients: a systematic review

X Kong, L Xie, H Zhu, L Song, X Xing, W Yang… - Orphanet Journal of …, 2019 - Springer
Hereditary hemochromatosis (HH) is a genetic disorder that causes excess absorption of
iron and can lead to a variety of complications including liver cirrhosis, arthritis, abnormal …

Phenotypic analysis of hemochromatosis subtypes reveals variations in severity of iron overload and clinical disease

K Sandhu, K Flintoff, MD Chatfield… - Blood, The Journal …, 2018 - ashpublications.org
The clinical progression of HFE-related hereditary hemochromatosis (HH) and its
phenotypic variability has been well studied. Less is known about the natural history of non …

Recent advance in the molecular genetics of Wilson disease and hereditary hemochromatosis

T Lv, X Li, W Zhang, X Zhao, X Ou, J Huang - European journal of medical …, 2016 - Elsevier
Metabolic liver diseases such as Wilson disease (WD) and hereditary hemochromatosis
(HH) possess complicated pathogenesis and typical hereditary characteristics with the …

Juvenile hemochromatosis: a case report and review of the literature

A Takami, Y Tatsumi, K Sakai, Y Toki, K Ikuta… - Pharmaceuticals, 2020 - mdpi.com
Juvenile hemochromatosis (JH), type 2A hemochromatosis, is a rare autosomal recessive
disorder of systemic iron overload due to homozygous mutations of HJV (HFE2), which …

HFE and Non-HFE Hereditary Hemochromatosis Based on Screening of 854 Individuals: 12 Years of an Iranian Experience

R Zarifian Yeganeh, M Akbari Kelishomi… - Genetic Testing and …, 2024 - liebertpub.com
Introduction: The genetics of hereditary hemochromatosis (HH) is understudied in Iran. Here,
we report the result of genetic screening of 854 individuals, referred as “suspected cases of …

[PDF][PDF] Genotypic and phenotypic spectra of hemojuvelin mutations in primary hemochromatosis patients: a systematic

X Kong, L Xie, H Zhu, L Song, X Xing, W Yang, X Chen - 2019 - ojrd.biomedcentral.com
Hereditary hemochromatosis (HH) is a genetic disorder that causes excess absorption of
iron and can lead to a variety of complications including liver cirrhosis, arthritis, abnormal …

[PDF][PDF] Case Report Hemochromatosis resulted from large-dose intravenous iron injection in hemodialysis patients: a report of two cases

JD Li, L Guo, SS Guo, YL Gou, YL Gong, H Chen - Int J Clin Exp Med, 2018 - e-century.us
Iron deficiency is very common in untreated dialysis patients, and hemochromatosis should
be rare in theory. However, large doses of intravenous iron injection may cause …

[PDF][PDF] Diabetes Mellitus no contexto da Hemocromatose Hereditária.

CS Domingues - 2017 - repositorio-aberto.up.pt
A hemocromatose hereditária caracteriza-se por ser uma doença genética autossómica
recessiva, comum em caucasianos. A predisposição fisiopatológica para o aumento …

[HTML][HTML] Juvenile hemochromatosis in iran: a case report with 5-year follow-up after treatment

H Nobakht, S Zolfaghari, M Pourazizi… - Middle East journal of …, 2016 - ncbi.nlm.nih.gov
Juvenile hemochromatosis is a rare autosomal recessive disorder that typically occurs in the
first to third decades of life. Its symptoms are more acute and severe than classic …

Eisenmangelanämie und Eisenstoffwechselstörungen

SW Eber, LA Machetanz - Pädiatrie up2date, 2015 - thieme-connect.com
An zweiter Stelle sind verminderte Eisendepots bei unreif geborenen Kindern zu nennen. Es
besteht eine enge Korrelation zwischen Gestationsalter und Eisenvorrat. Zur Prophylaxe …