Journal of Medical Cases, ISSN 1923-4155 print, 1923-4163 online, Open Access
Article copyright, the authors; Journal compilation copyright, J Med Cases and Elmer Press Inc
Journal website http://www.journalmc.org

Case Report

Volume 10, Number 2, February 2019, pages 58-61

Iron Overload Cardiomyopathy due to Non-Classical Hereditary Hemochromatosis

Table

Table 1. Primary Hereditary Hemochromatosis due to Increased Gastrointestinal (GI) Absorption of Normal Diet
 
DiseasesMolecular correlatesOrgans affected
HJV: hemojuvelin-encoding gene; HLA: human leukocyte antigen; TFR1: transferrin receptor 1.
Type 1 (HFE-related) (AR), the most common typeMissense mutation in C282Y homozygosity, H63D homozygosity, C282Y/H63D heterozygosity, and other mutations of HFELiver, heart, and endocrine glands
Type 2 (juvenile hemochromatosis) (AR)Type 2 A Hemojuvelin protein (HJV gene), Type 2 B Hepcidin protein (HAMP gene)Liver, heart, endocrine glands, and skeletal muscles
Type 3 (AR)Mutation in transferrin receptor 2Liver, heart, and endocrine glands
Type 4 (AD)Mutation of solute carrier family 40, member 1(SLC40A1) which encodes for ferroportinMacrophages, liver, heart, and endocrine glands