Terri Gelbart

TL;DR: It is suggested that the unstable UGT1A1 polymorphism may serve to "fine-tune" the plasma bilirubin level within population groups, maintaining it at a high enough level to provide protection against oxidative damage, but at a level that is sufficiently low to prevent kernicterus in infants.

TL;DR: The normal age distribution of people with the haemochromatosis genotype, and the lack of symptoms in patients of all ages, indicate that the penetrance of hereditary haemosynthesis is much lower than generally thought.

TL;DR: The mask phenotype results from reduced absorption of dietary iron caused by high levels of hepcidin and is due to a splicing defect in the transmembrane serine protease 6 gene Tmprss6, an essential component of a pathway that detects iron deficiency and blocks Hamp transcription, permitting enhanced dietary iron absorption.

TL;DR: Hepcidin stimulatory activity of macrophages from IL-6-/- mice can be accounted for by IL-1 that they secrete, andIL-1 may play a significant role in the anemia of inflammation by up-regulating hepcidin.

TL;DR: The DNA of 147 patients of European origin clinically diagnosed with idiopathic hemochromatosis and 193 controls was examined for mutations of the HLA-H gene at nt 845 and nt 187, suggesting the presence of as yet undiscovered mutations existing in trans with 845A and in linkage disequilibrium with 187G.