Hereditary hemochromatosis (HH) is a prevalent human disease caused by a mutation in HFE, which encodes an atypical HLA class I protein involved in regulation of intestinal iron absorption. To gain insight into the pathogenesis of hemochromatosis, we have bred Hfe knockout mice to strains carrying other mutations that impair normal iron metabolism. Compound mutant mice lacking both Hfe and its ...

BACKGROUND & AIMS The high prevalence, morbidity, premature death, and benefit of early diagnosis and treatment make hemochromatosis a prime target for screening in the white population. Decision analysis techniques were used to compare the outcome, utility, and incremental cost savings of a plan to screen voluntary blood donors for hemochromatosis. METHODS The screening strategy includes seq...

Juvenile hemochromatosis is a rare autosomal recessive disorder characterized by the early onset of severe iron overload. We report the occurrence of compound heterozygous mutations in hemojuvelin (HJV), including a termination codon, in a patient with juvenile hemochromatosis but no family history of iron disorders.

BACKGROUND Clinical penetrance of hereditary hemochromatosis is highly variable. We hypothesized that it might be modified by factors involved in the cellular immune response, such as toll-like receptors (TLRs) or nucleotide oligomerization domain proteins (NODs). METHODS Clinical expression of hemochromatosis was assessed as a function of TLR4, TLR9, and NOD2 polymorphisms in 99 homozygous c...

-thalassemia major is a disease caused by  polypeptide chain synthesis disorder which is inherited as an autosomal recessive from both parents which is marked by little or no  globin chain synthesis. Medication for  thalassemia major patients is by repeated blood transfusions, which causes hemochromatosis. Hemochromatosis can occur in various organs including the pancreas. The aim of the st...

Juvenile hemochromatosis is a severe form of hereditary iron overload. It can be caused by mutations in either hepcidin or hemojuvelin genes. In this study we identified the molecular basis of juvenile hemochromatosis in three Australian families and assessed the role of potential modifying genes in individuals carrying HFE mutations.

We report the first surviving case of neonatal hemochromatosis with renal tubular dysgenesis. Renal failure was treated with peritoneal dialysis. Although hepatic failure from neonatal hemochromatosis was progressive, repeated exchange transfusions improved jaundice and coagulopathy. The patient gained weight and received a liver transplantation from her father.

BACKGROUND AND OBJECTIVE Porphyria cutanea tarda (PCT) is a disorder of porphyrin metabolism associated with decreased activity of uroporphyrinogen decarboxylase (URO-D) in the liver. The relevance of iron in the pathogenesis of PCT is well established: iron overload is one of the factors that trigger the clinical manifestations of the disease and iron depletion remains the cornerstone of thera...

TESTOSTERONE TREATMENT OF HEMOCHROMATOSIS In recent years there have been reports suggesting that in patients with hemochromatosis the use of testosterone may be of benefit, at least symptomatically, with apparent improvement in strength and sense of wellbeing. Such beneficial results have been thought to be related to the gonadal hypoplasia commonly seen in hemochromatosis and to the anabolic ...

BSJFW, et al. Automated measurement of unsaturated iron binding capacity is an effective screening strategy for C282Y homozygous hemochromatosis. Gut 2000;46:405–9. 14. Witte DL, Crosby WH, Edwards CQ, Fairbanks VF, Mitros FA. Hereditary hemochromatosis. Clin Chim Acta 1996;245:139–200. 15. Adams PC, Bhayana V. Unsaturated iron binding capacity: a screening test for hemochromatosis? Clin Chem 2...