Idiopathic haemochromatosis: An autosomal recessive disease

Saddi, R.; Feingold, J

doi:10.1111/j.1399-0004.1974.tb01688.x

Cited by 52 publications

(11 citation statements)

References 4 publications

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“…Overall, in agreement with certain previous suggestions and the conclusions of a recent extensive study (Saddi & Feingold 1974), our choice would be a recessive or rather intermediate type of heredity. The particularity of the present study would be to introduce valuable arguments based on statistical significance owing to the large number of subjects examined.…”

Section: Discussionsupporting

confidence: 89%

“…The fact that such a heredity even exists has been denied (MacDonald 1964), but discussion has mainly centered on the type of heredity; most of the possible modes of transmission have been suggested and even affirmed: dominant transmission (DebrC et al 1958, Bothwell et al 1959, Morgan 1961, Lange & Endler 1962, Balcerzak et al 1966, Morvan 1973; recessive or intermediate modes (Williams et al 1962, Powell 1965, Felts e t al. 1967, Sinniah 1969, Scheinberg 1973, Saddi & Feingold 1974; multifactorial heredity (Sinniah 1969, Crosby 1974, Grace & Powell 1974; and variable heredity according to the type of I.H. (Felts et al 1967, Ross et al 1975, Crosby 1976.…”

Section: Since the Proposal By Sheldon In 1935 Thatmentioning

confidence: 99%

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Heredity of idiopathic haemochromatosis: A study of 106 families

et al. 1977

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More than 80 % of the first degree relatives of 106 patients with iron overload ‐ 97 with idiopathic haemochrornatosis (I.H.) and nine with haemosiderosis secondary to alcohol induced liver disease (A.H.) ‐ were examined. Physical examination and measurement of plasma iron level and UIBC were done in all subjects; relatives who presented with some anomaly were submitted to a desferrioxamine test and, if the latter showed a high urinary iron output, to a liver biopsy. While absent in relatives of A.H. patients, iron overload was present in 78 out of 499 relatives of I.H. patients: 29 major and 49 minor forms. The major forms involved the sibships almost exclusively. The genetic analysis showed much evidence in favour of a recessive or rather intermediate form of inheritance, with heterozygous developing minor forms. However, other modes of transmission, especially poly‐genic (probably oligogenic), cannot be totally excluded. Data from recent studies showing a strong correlation between I.H. and certain HLA antigens do not conflict with the above conclusions.

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Section: Discussionsupporting

confidence: 89%

Section: Since the Proposal By Sheldon In 1935 Thatmentioning

confidence: 99%

Heredity of idiopathic haemochromatosis: A study of 106 families

et al. 1977

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“…HFE hemochromatosis occurs as an autosomal recessive trait [11, 12] in 0.3–0.6% of whites of European descent [13–15] that is due to homozygosity for p.C282Y of the HFE gene (chromosome 6p21.3) [13]. HFE is linked to the major histocompatibility complex (MHC) [13].…”

Section: Hfe Hemochromatosismentioning

confidence: 99%

Diabetes inHFEHemochromatosis

Barton

Acton

2017

Journal of Diabetes Research

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Diabetes in whites of European descent with hemochromatosis was first attributed to pancreatic siderosis. Later observations revealed that the pathogenesis of diabetes in HFE hemochromatosis is multifactorial and its clinical manifestations are heterogeneous. Increased type 2 diabetes risk in HFE hemochromatosis is associated with one or more factors, including abnormal iron homeostasis and iron overload, decreased insulin secretion, cirrhosis, diabetes in first-degree relatives, increased body mass index, insulin resistance, and metabolic syndrome. In p.C282Y homozygotes, serum ferritin, usually elevated at hemochromatosis diagnosis, largely reflects body iron stores but not diabetes risk. In persons with diabetes type 2 without hemochromatosis diagnoses, serum ferritin levels are higher than those of persons without diabetes, but most values are within the reference range. Phlebotomy therapy to achieve iron depletion does not improve diabetes control in all persons with HFE hemochromatosis. The prevalence of type 2 diabetes diagnosed today in whites of European descent with and without HFE hemochromatosis is similar. Routine iron phenotyping or HFE genotyping of patients with type 2 diabetes is not recommended. Herein, we review diabetes in HFE hemochromatosis and the role of iron in diabetes pathogenesis in whites of European descent with and without HFE hemochromatosis.

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“…Hereditary hemochromatosis. is a recessive disorder (Saddi & Feingold 1974) characterized by increased body iron stores, resulting in organ damage and functional insufficiency. Some of the heterozygotes have increased iron loads.…”

Section: Genetlc Susceptlbllltymentioning

confidence: 99%

Impact of medical genetics on environmental medicine

Beckman

1989

Clinical Genetics

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Medical genetics as a discipline has contributed basic knowledge of great applicability in environmental medicine, e.g. 1) the demonstration that environmental agents may cause chromosomal damage, 2) that chromosome aberrations are correlated with increased risks for cancer and spontaneous abortion, and 3) that the susceptibility to cyto‐ and genotoxic damage may be influenced by genetic factors. This paper discusses examples of applications of genetic knowledge in environmental medicine and areas for future research.

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Idiopathic haemochromatosis: An autosomal recessive disease

Cited by 52 publications

References 4 publications

Heredity of idiopathic haemochromatosis: A study of 106 families

Heredity of idiopathic haemochromatosis: A study of 106 families

Diabetes inHFEHemochromatosis

Impact of medical genetics on environmental medicine

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