Management of Hemochromatosis

  title={Management of Hemochromatosis},
  author={James C. Barton and Sharon M. McDonnell and Paul C Adams and Pierre Brissot and Lawrie W. Powell and Corwin Q. Edwards and James D. Cook and Kris V. Kowdley},
  journal={Annals of Internal Medicine},
Diagnosis and Initial Evaluation Diagnosis of Hemochromatosis Persons with hemochromatosis have an inherited propensity to absorb excess iron; most persons are of European origin and are homozygotes or compound heterozygotes for a mutant gene or genes on chromosome 6p [1, 2]. Hyperferremia and increased iron saturation of transferrin are essential attributes of hemochromatosis. A transferrin saturation of 60% or more for men and 50% or more for women on at least two occasions in the absence of… 

Hereditary hemochromatosis.

Patients at risk for genetic hemochromatosis should be screened, identified, and treated as early as age 20 to prevent or minimize the deadly complications of hemochROMatosis.

Hemochromatosis: genetic testing and clinical practice.

  • H. ZollerT. Cox
  • Medicine, Biology
    Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association
  • 2005

Strategies To Increase Detection of Hemochromatosis

The integration of case detection into health care for adults will require convincing health care providers and payers that routine screening is worthwhile and providing the infrastructure necessary to support screening with the transferrin saturation test.

HFE-associated hereditary hemochromatosis.

The discovery of the HFE gene and the frequency of the single C282Y mutation as a cause of most cases of hereditary hemochromatosis allow the possibility of widespread genetic testing, however, the logistics, the psychological and social consequence of this, coupled with incomplete expression of the genotype, necessitate further studies before population screening can be justified.

Diagnosis of Hemochromatosis

The description of hemochromatosis and the tests used to diagnose it are updated and increased emphasis has been placed on early detection, shifting the case definition and diagnosis to earlier stages of the disease.

EASL clinical practice guidelines for HFE hemochromatosis.

  • Jia Ji-don
  • Medicine, Biology
    Journal of hepatology
  • 2010

Iron deficiency due to excessive therapeutic phlebotomy in hemochromatosis

Sustained iron deficiency in hemochromatosis patients should be prevented by monitoring hemoglobin levels and serum ferritin; and iron supplementation is unnecessary and not recommended for the mild, self‐limited anemia and decreased serum iron and ferritIn concentrations encountered after initial iron depletion therapy for hemochROMatosis.

Hereditary haemochromatosis: a realistic approach to prevention of iron overload disease in the population.

More research is needed to identify the factors that increase risk for disease in persons with excess iron uptake, to determine whether moderate iron overload is a health risk and to evaluate the causes of iron overload other than HHC.

Impact of hemochromatosis screening in patients with indeterminate results: The hemochromatosis and iron overload screening study

Notification of indeterminate results from screening may be associated with mild negative effects on well-being, and might be a potential participant risk in screening programs for disorders with uncertain genotype-phenotype.



Hereditary hemochromatosis in children, adolescents, and young adults.

Young individuals who should be screened for iron overload include patients with cardiac myopathies, hypogonadism, amenorrhea, loss of libido, diabetes mellitus, other endocrine disorders, cirrhosis of the liver, and arthritis, as well as the siblings, parents, and children of patients with hereditary hemochromatosis or iron loading of unknown cause.

Prevalence of hemochromatosis among 11,065 presumably healthy blood donors.

The value of population screening is demonstrated in these studies by the detection of homozygotes before clinical manifestations of hemochromatosis occur, and the efficacy of transferrin saturation as a screening tool for hemochROMatosis is determined.

Hemochromatosis: association of severity of iron overload with genetic markers.

The hypothesis that the severity of iron overload in homozygous hemochromatosis is determined predominantly by genetic factors is supported, and evidence that two or more mutations for hemochROMatosis exist is provided.

Clinical Features of Genetic Hemochromatosis in Women Compared with Men

Patients in this study were referred to the Clinique des Maladies du Foie in Rennes, France, or the London Health Sciences Centre, London, Canada, for assessment and treatment of hemochromatosis, and all women who met the diagnostic criteria were considered for the study and were matched for year of birth with men who had hemochomatosis and were from the same country.

Homozygosity for hemochromatosis: clinical manifestations.

35 homozygotes for hemochromatosis were identified through pedigree studies and only one had the triad of hepatomegaly, hyperpigmentation, and diabetes.

Long-term survival in patients with hereditary hemochromatosis.

Prognosis of hemochromatosis and most of its complications, including liver cancer, depend on the amount and duration of iron excess, and early diagnosis and therapy largely prevent the adverse consequences of iron overload.

Thyroid disease in hemochromatosis. Increased incidence in homozygous men.

Iron may have caused injury to the thyroid, followed by the development of antithyroid antibodies and hypothyroidism, and the causative importance of iron deposition in thyroid diseases associated with hemochromatosis was suggested by the reversal of the usual sex ratio of thyroid dysfunction.

Correlation between genotype and phenotype in hereditary hemochromatosis: analysis of 61 cases.

Investigating the presence or absence of HFE mutations will be clinically useful in identifying patients with hereditary hemochromatosis and patient genotyping will help confirm a diagnosis of hereditary hemosynthesis in some patients with relatively low body iron stores support the suspicion that individuals may have hereditaryhemochrom atosis and homozygous C282Y despite relatively lowBody iron stores.

Hemochromatosis: genetic or alcohol-induced?

Clinical and biochemical abnormalities in people heterozygous for hemochromatosis.

The phenotype of persons heterozygous for hemochromatosis differs from that of normal subjects, but complications due to iron overload alone in these heterozygotes are extremely rare.