Atypical juvenile hereditary hemochromatosis onset with positive pancreatic islet autoantibodies diabetes caused by novel mutations in HAMP and overall clinical management.
Hui-Xuan WuJun-Ying LiuDe-Wen YanLong LiXiang-Hua ZhuangHai-Yan LiZhi-Guang ZhouHou-De ZhouPublished in: Molecular genetics & genomic medicine (2020)
It was first reported that positive pancreatic islet autoantibodies diabetes onset of JHH resulted from loss-of-function mutations of HAMP, of which the atypical JHH should be differentially diagnosed with type 1 diabetes at the onset. Early administration of phlebotomy and vital organs protection and surveillance might be important for the treatment of atypical JHH.