The p.M172K TFR2 mutation was identified in two Italian siblings aged 32 and 40 years old with primary iron overload. The two patients showed a severe increase in serum iron indices. From the age of 25, the male sib also revealed abnormal levels of hepatic enzymes, presumably in relation to iron induced liver damage. Clinical findings seem to evidence that type 3 hemochromatosis can be more ser...

Juvenile or type 2 hemochromatosis (JH) is a genetic disease caused by increased intestinal iron absorption that leads to early massive iron overload. The main form of the disease is caused by mutations in a still unknown gene on chromosome 1q. Recently, we recognized a second type of JH with clinical features identical to the 1q-linked form, caused by mutations in the gene encoding hepcidin (H...

BACKGROUND The U.S. Preventive Services Task Force (USPSTF) has not previously considered screening for hereditary hemochromatosis for a recommendation as a clinical preventive service for primary care clinicians. PURPOSE To conduct a focused systematic review of hereditary hemochromatosis screening relating to 2 USPSTF criteria, the burden of suffering and the potential effectiveness of a pr...

Volume 41, January 2001 TRANSFUSION 123 Hemochromatosis occurs in approximately 1 in 200 white persons of Western European descent, and it increases the propensity to absorb excess iron. Iron overload associated with hemochromatosis can cause hepatic cirrhosis, primary liver cancer, arthropathy, diabetes mellitus, other endocrinopathic disorders, and a reduction in lifespan.1,2 These complicati...

This study looks at expression of genetic hemochromatosis in the homozygous and heterozygous states. Two hundred nine subjects in 40 families with confirmed hemochromatosis and clear evidence of HLA linkage in symptomatic individuals were studied prospectively for up to 24 yr. The study group consisted of 40 probands, 51 subjects sharing two HLA haplotypes with affected relatives (putative homo...

Hemochromatosis is a disease caused by extraordinary iron deposition in parenchymal cells leading to cellular damage and organ dysfunction. β-thalassemia major is one of the causes of secondary hemochromatosis due to regular transfusional treatment for maintaining adequate levels of hemoglobin. Hypogonadism is one of the potential complications of hemochromatosis, usually seen in patients with ...

BACKGROUND & AIMS An elevated transferrin saturation is the earliest phenotypic abnormality in hereditary hemochromatosis. Determination of transferrin saturation remains the most useful noninvasive screening test for affected individuals, but there is debate as to the appropriate screening level. The aims of this study were to estimate the mean transferrin saturation in hemochromatosis heteroz...

www.aafp.org/afp AMERICAN FAMILY PHYSICIAN 853 Most physicians diagnose only a few cases of hereditary hemochromatosis in their practice because they do not routinely test for iron overload and because many patients with the disorder have no manifestations. It is estimated that the typical primary care physician encounters one patient with hereditary hemochromatosis every two weeks. Iron overlo...

Hereditary hemochromatosis refers to several inherited disorders of the iron metabolism that lead to tissue iron overload. Classical hereditary hemochromatosis is associated with mutations of the HFE gene (C282Y homozygotes or C282Y/H63D compound heterozygotes) and is almost exclusively found in populations of northern European descent. Non-HFE-associated hereditary hemochromatosis is caused by...