Diagnosis and treatment of hereditary hemochromatosis: an update

P Kanwar, KV Kowdley - Expert review of gastroenterology & …, 2013 - Taylor & Francis
Hereditary hemochromatosis is an inherited iron overload disorder caused by
inappropriately low hepcidin secretion leading to increased duodenal absorption of dietary …

Trans-acting genetic modifiers of clinical severity in heterozygous β-Thalassemia trait

JB Loh, JM Ross, KM Musallam, KHM Kuo - Annals of Hematology, 2024 - Springer
There is a group of beta (β)-thalassemia trait 'carriers'(with heterozygous mutations) who
should be asymptomatic with minor abnormalities in their hematological parameters, but …

Hepcidin deficiency undermines bone load-bearing capacity through inducing iron overload

L Sun, W Guo, C Yin, S Zhang, G Qu, Y Hou, H Rong… - Gene, 2014 - Elsevier
Osteoporosis is one of the leading disorders among aged people. Bone loss results from a
number of physiological alterations, such as estrogen decline and aging. Meanwhile, iron …

[HTML][HTML] The correlation of cardiac and hepatic hemosiderosis as measured by T2* MRI technique with ferritin levels and hemochromatosis gene mutations in Iranian …

MS Soltanpour, K Davari - Oman Medical Journal, 2018 - ncbi.nlm.nih.gov
Objectives Organ-specific hemosiderosis and iron overload complications are more serious
and more frequent in some patients with beta thalassemia major (BTM) compared with …

[HTML][HTML] Frequency of hereditary hemochromatosis (HFE) gene mutations in Egyptian beta thalassemia patients and its relation to iron overload

AA Enein, NA El Dessouky, KS Mohamed… - … journal of medical …, 2016 - ncbi.nlm.nih.gov
AIM: This study aimed to detect the most common HFE gene mutations (C282Y, H63D, and
S56C) in Egyptian beta thalassemia major patients and its relation to their iron status …

Effect of HFE Gene Mutations on Iron Metabolism of Beta-Thalassemia Carriers

ME Mónaco, NS Alvarez Asensio, C Haro… - Thalassemia …, 2023 - mdpi.com
The human hemochromatosis protein HFE is encoded by the HFE gene and participates in
iron regulation. The aim of this study was to detect the most frequent HFE gene mutations in …

Effect of the hemochromatosis mutations on iron overload among the Indian β Thalassemia Carriers

AH Nadkarni, AA Singh, S Colaco… - Journal of clinical …, 2017 - Wiley Online Library
Background Hereditary hemochromatosis is a disorder of iron metabolism characterized by
increased iron absorption. HFE gene mutations C282Y and H63D are responsible for the …

[HTML][HTML] Hepcidin and HFE polymorphisms and ferritin level in β-thalassemia major

K Fekri, NA Rasouli, SAT Zavareh, M Jalil… - … -Oncology and Stem …, 2019 - ncbi.nlm.nih.gov
Background: Thalassemia patients need repeated transfusion that lead to increased blood
ferritin level and iron overload in the heart and liver. Because the roles of hepcidin …

Late-onset Hemochromatosis: Co-inheritance of β-thalassemia and Hereditary Hemochromatosis in a Chinese Family: A Case Report and Epidemiological Analysis of …

J Yang, Y Lun, X Shuai, T Liu, Y Wu - Internal Medicine, 2018 - jstage.jst.go.jp
Hereditary hemochromatosis and β-thalassemia can both result in the inappropriately low
production of the hormone hepcidin, which leads to an increase in intestinal absorption and …

The effect of HFE polymorphisms on cardiac iron overload in patients with beta-thalassemia major

A Turedi, Y Oymak, T Meşe, Y Yaman… - Pediatric Hematology …, 2013 - Taylor & Francis
Objective: We aimed to investigate the effect of human hemochromatosis protein (HFE)
polymorphisms on cardiac iron overload in patients with beta-thalassemia major. Methods …