PDF(Pubmed)
Abstract：
Hemochromatosis, also known as siderosis, is a disease caused by excessive iron deposition in human organs and tissues, resulting from iron metabolism disorders. It is clinically characterized by skin pigmentation (bronze color), liver cirrhosis, diabetes, weakness, and fatigue. Additional symptoms may include arthritis, hypothyroidism, heart failure, and sexual hypofunction. Clinical manifestations can vary from person to person, with a few patients showing no clinical manifestations, which makes the diagnosis difficult for clinicians. In this case report, we described hereditary hemochromatosis related to a mutation in the HAMP gene in Fuyang City, China, as a reference for clinicians. Hereditary hemochromatosis is rarely reported in China. Clinicians in China have relatively insufficient knowledge of this disease, which leads to frequent misdiagnosis. In this case report, we describe hereditary hemochromatosis related to HAMP gene mutation in Fuyang City, China, for the clinician\'s reference.
摘要：
血色素沉着症,也被称为铁质沉着症，是由人体器官和组织中铁过度沉积引起的疾病，由铁代谢紊乱引起的。它的临床特征是皮肤色素沉着（古铜色），肝硬化,糖尿病,弱点,和疲劳。其他症状可能包括关节炎，甲状腺功能减退,心力衰竭,和性功能减退。临床表现因人而异，少数患者没有临床表现，这使得临床医生难以诊断。在这个案例报告中,我们描述了与阜阳市HAMP基因突变有关的遗传性血色素沉着病，中国,作为临床医生的参考。遗传性血色素沉着病在中国很少报道。我国临床医生对本病的认识相对不足,这导致了频繁的误诊。在这个案例报告中,我们描述了阜阳市与HAMP基因突变相关的遗传性血色素沉着病，中国,供临床医生参考。
