Phenotyping rare hepcidin deficiency

摘要

In this issue of Blood, Sandhu et al(1) comprehensively catalog the individual data from all reported cases of hepcidin-deficient hemochromatosis related to HAMP, HJV, and TFR2 mutations to determine their phenotype compared with HFE hemochromatosis. Sheldon's Haemochromatosis textbook was a landmark in the field, thoroughly reviewing all reported cases of hemochromatosis in 1935.(2) Similarly, this study describes the rare forms of hereditary hemochromatosis that will help interpret results through genotype-phenotype correlations and foster the search for genes involved in the still unexplained forms of non-HFE hemochromatosis.