Familial iron overload with possible autosomal dominant inheritance

Eason, Russell J.; Adams, P. C.; Aston, Christopher E.; Searle, Jeffrey

doi:10.1111/j.1445-5994.1990.tb01024.x

Cited by 57 publications

(33 citation statements)

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“…3 Iron overload can occur in nonwhites and may be related to as-yet-undiscovered genetic mutations, environmental factors, or both. [4][5][6][7][8][9] The Hemochromatosis and Iron Overload Screening (HEIRS) study was designed to evaluate the prevalence, genetic and environmental determinants, and potential clinical, personal, and societal effects of iron overload and hemochromatosis in a multicenter, multiethnic sample of 101,168 primary care adults 25 years of age or older. This article reports findings from the first, or screening, stage of the study.…”

Section: Resultsmentioning

confidence: 99%

Hemochromatosis and Iron-Overload Screening in a Racially Diverse Population

et al. 2005

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Section: Resultsmentioning

confidence: 99%

Hemochromatosis and Iron-Overload Screening in a Racially Diverse Population

et al. 2005

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“…72 Subsequently it was shown that the dominant disorder is usually characterized by iron accumulation in macrophages but normal/low transferrin saturation. These atypical features indicate a different pathogenesis than in other forms of hemochromatosis.…”

Section: Ferroportin Disease: a Hemochromatosis-related Dual Face Dismentioning

confidence: 99%

Understanding iron homeostasis through genetic analysis of hemochromatosis and related disorders

Camaschella

2005

Blood

183

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Genetic analysis of hemochromatosis has led to the discovery of a number of genes whose mutations disrupt iron homeostasis and lead to iron overload. The introduction of molecular tests into clinical practice has provided a tool for early diagnosis of these conditions. It has become clear that hemochromatosis includes a spectrum of disorders that range from simple biochemical abnormalities to chronic asymptomatic tissue damage in midlife to serious life-threatening diseases in young subjects. Molecular studies have identified the systemic loop that controls iron homeostasis and is centered on the hepcidin-ferroportin interaction. The complexity of this regulatory pathway accounts for the genetic heterogeneity of hemochromatosis and related disorders and raises the possibility that genes encoding components of the pathway may be modifiers of the main genotype. Molecular diagnosis has improved the classification of the genetic conditions leading to iron overload and identified novel entities, characterized by both iron loading and variable degrees of anemia. Despite the progress in the diagnosis, classification, and mechanisms of iron overload disorders, the treatment of affected patients continues to rely on regular phlebotomy. Understanding the molecular circuitry of iron control may lead to the identification of potential therapeutic targets for novel treatment strategies to be used in association with or as an alternative to phlebotomy. (Blood. 2005;106:3710-3717)

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“…6,7 Hemochromatosis families with apparent autosomal dominant inheritance have been reported. [8][9][10] Recently, a new locus for an autosomal dominant form of hemochromatosis (HFE4) was identified on chromosome 2q32. Two missense mutations in the ferroportin1 gene, which maps to this region, were detected in 2 families with autosomal dominant hemochromatosis from the Netherlands and Italy.…”

Section: Introductionmentioning

confidence: 99%