BACKGROUND Results of previous autopsy studies indicate that increased hepatic iron stores or hepatic iron overload is common in African Americans dying in hospitals, but there are no reports of hepatic iron content in other cohorts of African Americans. METHODS We investigated the prevalence of heavy liver iron deposition in African American adults. Using established histochemical criteria, ...

Mutations in the Hfe gene result in hereditary hemochromatosis (HH), a disorder characterized by increased duodenal iron absorption and tissue iron overload. Identification of a direct interaction between Hfe and transferrin receptor 1 in duodenal cells led to the hypothesis that the lack of functional Hfe in the duodenum affects TfR1-mediated serosal uptake of iron and misprogramming of the ir...

Hereditary hemochromatosis (HH) is the most frequent genetic disease in populations of European origin. The HH gene was cloned by Feder et al. in 1996, and 2 major mutations were discovered: C282Y and H63D. Geographical differences with mutation frequencies have been published (1, 2) with a decreasing gradient of occurrence in Europe from north to south. HH leads to liver iron overload and rais...

background: iron-mediated cardiomyopathy is the main complication of thalassemia major (tm) patients. therefore, there is an important clinical need in the early diagnosis and risk stratification of patients. the aim of this study was to evaluate the efficacy of tissue doppler imaging (tdi) to study cardiac iron overload in patients with tm using t2* magnetic resonance (mr) as the gold-standard...

Divalent metal transporter 1 (DMT1) mediates apical iron uptake in duodenal enterocytes and iron transfer from the transferrin receptor endosomal cycle into the cytosol in erythroid cells. Both mk mice and Belgrade rats, which carry an identical DMT1 mutation, exhibit severe microcytic anemia at birth and defective intestinal iron use and erythroid iron use. We report the hematologic phenotype ...

Divalent metal transporter 1 (DMT1) mediates apical iron uptake in duodenal enterocytes and iron transfer from the transferrin receptor endosomal cycle into the cytosol in erythroid cells. Both mk mice and Belgrade rats, which carry an identical DMT1 mutation, exhibit severe microcytic anemia at birth, defective intestinal iron absorption and erythroid iron utilization. We report the hematologi...

Coding region mutations in the principal basolateral iron transporter of the duodenal enterocyte, ferroportin 1 (FPN1), lead to autosomal dominant reticuloendothelial iron overload in humans. We report the positional cloning of a hypermorphic, regulatory mutation in Fpn1 from radiation-induced polycythaemia (Pcm) mice. A 58 bp microdeletion in the Fpn1 promoter region alters transcription start...