AUTHOR=Wang Jinling , Xu Jing , Jiang Ning , Liu Hui , Li Fengcheng , Wang Beibei , Wang Jin , Chu Ziyu , Tan Lin , Li Shasha 

TITLE=Case report: A rare case of hereditary hemochromatosis caused by a mutation in the HAMP gene in Fuyang, China

JOURNAL=Frontiers in Medicine

VOLUME=Volume 11 - 2024

YEAR=2024

URL=https://www.frontiersin.org/journals/medicine/articles/10.3389/fmed.2024.1417611

DOI=10.3389/fmed.2024.1417611

ISSN=2296-858X

ABSTRACT=Hemochromatosis, also known as siderosis, is a disease caused by excessive iron deposition in human organs and tissues due to disorders of iron metabolism. It is clinically characterized by skin pigmentation (bronze color), liver cirrhosis, diabetes, etc. Weakness and fatigue are often present, and symptoms such as arthritis, hypothyroidism, heart failure, and sexual hypofunction may also occur. Clinical manifestations vary from person to person, and a small number of patients do not have any clinical manifestations, which makes diagnosis difficult for clinicians. In this case report, we described hereditary hemochromatosis related to HAMP gene mutation in Fuyang City, China for clinician’s reference. Hereditary hemochromatosis is rarely reported in China. The clinicians in China have relatively insufficient knowledge of this disease which leads to frequent misdiagnosis. In this case report, we described hereditary hemochromatosis related to HAMP gene mutation in Fuyang City, China for clinician’s reference. We confirmed the diagnosis of type 2B hereditary hemochromatosis in this patient through blood examination, magnetic resonance imaging, pathological and genetic tests.