Hereditary hemochromatosis is inherited in an autosomal recessive manner with partial biochemical expression in heterozygotes. A high percentage of saturation of serum transferrin is the hallmark of the disorder, and serum ferritin concentration gives an approximate estimation of the size of iron stores. Hepatic computed tomography, magnetic susceptometry, and nuclear magnetic resonance provide...

BACKGROUND Hereditary hemochromatosis is an inherited disorder of iron metabolism that is characterized by excessive iron deposition in major organs of the body. Chronic increased iron absorption leads to multiorgan dysfunction. Since the discovery of the gene responsible for the majority of cases, research has progressed rapidly to identify the gene product, the effects of mutations, and the i...

Hereditary hemochromatosis Hereditary hemochromatosis (HH) is characterized by abnormal iron absorption from the diet resulting in progressive iron overload, causing tissue damage of several organs, particularly the liver (1). Historically HH has been regarded as an extremely rare inborn error of metabolism causing "bronze diabetes", liver cirrhosis and hepatocellular carcinoma due to heavy iro...

OBJECTIVE To review the current state-of-the-art regarding the role of iron- and DNA-based testing on the detection, treatment, and prevention of hereditary hemochromatosis (HH), the most common single-gene disorder in white people. SOURCES Review of the medical literature, with particular emphasis on recent reports of the impact of DNA-based testing on the detection of symptomatic and presym...

OBJECTIVE The information concerning the morbidity and mortality of hereditary hemochromatosis is based primarily on clinical cohorts of symptomatic patients. The major aim of this study was to analyze the long-term prognosis for Swedish patients with this condition, with respect to both clinical features and survival, in relation to the route by which the disease was detected. PATIENTS AND M...

Hereditary hemochromatosis has an autosomal recessive inheritance pattern. The homozygous diseased state occurs in 50 of 10,000 and the heterozygous non-diseased carrier state in 1000 of 10,000 caucasians.3 The typical case has two unaffected heterozygote carrier parents. However, HH can occur in consecutive generations owing to the chance mating between an as-yet-undetected homozygote and a he...

We report the efficacy, tolerability and cost of erythocytoapheresis plus recombinant human erythropoietin (rHuEPO) in three patients with severe hereditary hemochromatosis (HH). Results indicate that this regimen could be a valid therapeutic alternative in complicated HH patients. Its cost, however, limits its use to patients whose clinical conditions prevent a proper phlebotomy regimen.

We report a case of primary haemochromatosis complicated by anterior hypopituitarism which recovered after aggressive venesection therapy. Reversal of anterior hypopituitarism in haemochromatosis following iron depletion has not been previously described.

Iron overload has been noticed as a feature of human breast cancer. Cellular iron uptake is regulated by the hemochromatosis and transferrin receptor system, mutations of which cause the iron storage disease hereditary hemochromatosis. To understand the role of hemochromatosis and transferrin receptor system mutations in breast cancer, we analyzed 19 sequence variations at HFE, TFR1, TFR2, and ...

The progression rate of iron overload in hereditary hemochromatosis in individuals in the general population is unknown. We therefore examined in the general population iron overload progression rate in C282Y homozygotes. Using a cohort study of the Danish general population, The Copenhagen City Heart Study, we genotyped 9174 individuals. The 23 C282Y homozygotes identified were matched to 2 su...