Genetic Hemochromatosis: Pathogenesis, Diagnosis, and Therapy

Barisani, Donatella; Green, Richard M.; Gollan, John L.

doi:10.1159/000171561

Cited by 8 publications

(3 citation statements)

References 46 publications

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“…In these diseases, many years of excessive iron storage lead gradually to tissue and organ damage. The heart, joints, pancreas, liver, and other organs may be severely affected (35). The level of serum ferritin at which organ damage occurs has recently been studied.…”

Section: Choosing An Upper Limit Of Serum Ferritin For Iron Treatmentmentioning

confidence: 99%

Serum Ferritin in Chronic Kidney Disease: Reconsidering the Upper Limit for Iron Treatment

Fishbane

Kalantar-Zadeh

Nissenson

2004

Seminars in Dialysis

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Intravenous iron treatment in hemodialysis patients improves the response to recombinant human erythropoietin (rHuEPO) and facilitates achievement of targets for hemoglobin and hematocrit. Excessive treatment, however, could expose patients to risks related to iron overload and oxidative stress. Therefore international treatment guidelines generally recommend that intravenous iron be discontinued when serum ferritin is greater than 500-1000 ng/ml. In this article we explore the relevant issues that inform the decisions as to what levels of serum ferritin are used as the upper limit for treatment. We conclude that the current published literature is inadequate for developing evidence-based guidelines. Clinical judgment is critical to properly weigh the risks and benefits of intravenous iron treatment in the context of the individual patient.

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Section: Choosing An Upper Limit Of Serum Ferritin For Iron Treatmentmentioning

confidence: 99%

Serum Ferritin in Chronic Kidney Disease: Reconsidering the Upper Limit for Iron Treatment

Fishbane

Kalantar-Zadeh

Nissenson

2004

Seminars in Dialysis

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“…When both TS and serum ferritin concentration are elevated, particularly when serum ferritin is more than twice normal, liver biopsy is recommended to determine the extent of iron overload and the presence and degree of cirrhosis. Liver biopsy is considered to be the gold standard of diagnosis for hemochromatosis (Barisani, Green, & Gollan, 1996;Crosby, 1987). It is of both diagnostic and prognostic value in the sense that cirrhosis leads to hepatocellular carcinoma and also reflects irreversible liver damage.…”

Section: Diagnostic Studiesmentioning

confidence: 99%

Hereditary Hemochromatosis: Should Clinicians Screen for this Common Disease?

Russell¹

2000

Journal of the American Academy of Nurse Practitioners

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Hereditary hemochromatosis is a serious condition of abnormal iron metabolism that is often missed until complications involving multiple organ systems occurs. It is an autosomal recessive condition primarily affecting Caucasians of Western European origin. This article discusses the pathophysiology, diagnosis, and management of this condition. Questions related to population screening are examined and recommendations made for a cost-effective screening program.

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“…liver dysfunction). Haemo-chromatosis is the most significant disorder (Barisani et al 1996;Adams et al 1997). Primary (idiopathic) haemo-chromatosis is a metabolic, genetically conditioned disease.…”

mentioning

confidence: 99%

Iron, Zinc and Copper in Selected Tissues of Rabbits under Increasing Exposure to Iron

Maciejewska-Paszek¹,

Grochowska-Niedworok²,

Wardas³

et al. 2005

Acta Vet. Brno

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The aim of this study was to demonstrate the disturbance of zinc/copper balance in tissues as the possible accelerating factor of liver damage after short-and long-term exposure to high doses of iron in case of its accidental overdosing or experimental haemochromatosis. Thirty chinchilla rabbits were administered Jectofer /iron (III) -sorbitol iron complex/ Short-term administration was given to groups A and B, respectively. Long term administration was given to groups C, D and E, respectively. The contents of metals in the fur, muscles, skin and liver were determined by atomic absorption spectrometry (AAS).After short-term administration the highest concentrations of iron in comparison to the control group were observed in liver (about 42-46%) at each collection (p < 0.05), copper concentration in liver slightly decreased (≈23%), but increased in other tissues (by a maximum of 55%). Accumulation of zinc in fur was stable, but a decrease in other tissues like liver, muscles and skin was observed (4 -35%).After long-term administrations changes in zinc concentration were found (higher in the fur of groups C and D and in the liver in group E; lower in the skin of groups: C and E). On the other hand, the long-term administration of Jectofer caused a decrease in copper concentration in fur (23-70%) but caused a 3-to-5 fold increase in the skin of experimental rabbits.Short-term as well as long-term administration of iron affect changes of copper/zinc equilibrium concentrations in different tissues and in livers of rabbits.

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Genetic Hemochromatosis: Pathogenesis, Diagnosis, and Therapy

Cited by 8 publications

References 46 publications

Serum Ferritin in Chronic Kidney Disease: Reconsidering the Upper Limit for Iron Treatment

Serum Ferritin in Chronic Kidney Disease: Reconsidering the Upper Limit for Iron Treatment

Hereditary Hemochromatosis: Should Clinicians Screen for this Common Disease?

Iron, Zinc and Copper in Selected Tissues of Rabbits under Increasing Exposure to Iron

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