A 6-year survey of HFE gene test for hemochromatosis diagnosis

Mura, Catherine; Raguénès, Odile; Scotet, Virginie; Jacolot, Sandrine; Mercier, Anne-Yvonne; Férec, Claude

doi:10.1097/01.gim.0000151153.21369.63

Cited by 9 publications

(4 citation statements)

References 40 publications

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“…In four studies the control group was drawn from the general population 13 16 17 22. Three studies recruited the controls from among hospital employees,14 20 or hospital employees, students and their relatives 15.…”

Section: Resultsmentioning

confidence: 99%

“…The remaining study recruited their control group from several other patient groups 23. Sampling of controls was described as random in four studies,13 16 17 20 with the sampling methods being unclear in five studies,14 15 21 – 23 and the remaining studies involved volunteers 18 19. Only two studies reported that the individuals in the control group were unrelated to one another,19 21 and in one study the inclusion criteria allowed for related individuals to be included 15…”

Section: Resultsmentioning

confidence: 99%

“…In two of the five studies that gave an estimate <100%, the single individual homozygous for the C282Y mutation in the control group showed signs of evidence of iron overload 15. No details are given about the homozygous individuals in the control groups of the other three studies, so it is not known if they showed signs of irregular iron loading or whether they would be likely to do so in the future 17 18 23…”

Section: Resultsmentioning

confidence: 99%

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A systematic review of the clinical validity and clinical utility of DNA testing for hereditary haemochromatosis type 1 in at-risk populations

Bryant

Cooper

Picot

et al. 2008

Journal of Medical Genetics

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

See 1 more Smart Citation

A systematic review of the clinical validity and clinical utility of DNA testing for hereditary haemochromatosis type 1 in at-risk populations

Bryant

Cooper

Picot

et al. 2008

Journal of Medical Genetics

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“…Common mutations of HFE observed in HH type 1 are H63D, C282Y, and S65C; among them, C282Y is clearly pathogenic [59,60]. Typically, Fig.…”

Section: Various Types Of Hhmentioning

confidence: 99%

The mechanisms of systemic iron homeostasis and etiology, diagnosis, and treatment of hereditary hemochromatosis

Kawabata

2017

Int J Hematol

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Hereditary hemochromatosis (HH) is a group of genetic iron overload disorders that manifest with various symptoms, including hepatic dysfunction, diabetes, and cardiomyopathy. Classic HH type 1, which is common in Caucasians, is caused by bi-allelic mutations of HFE. Severe types of HH are caused by either bi-allelic mutations of HFE2 that encodes hemojuvelin (type 2A) or HAMP that encodes hepcidin (type 2B). HH type 3, which is of intermediate severity, is caused by bi-allelic mutations of TFR2 that encodes transferrin receptor 2. Mutations of SLC40A1 that encodes ferroportin, the only cellular iron exporter, causes either HH type 4A (loss-of-function mutations) or HH type 4B (gain-of-function mutations). Studies on these gene products uncovered a part of the mechanisms of the systemic iron regulation; HFE, hemojuvelin, and TFR2 are involved in iron sensing and stimulating hepcidin expression, and hepcidin downregulates the expression of ferroportin of the target cells. Phlebotomy is the standard treatment for HH, and early initiation of the treatment is essential for preventing irreversible organ damage. However, because of the rarity and difficulty in making the genetic diagnosis, a large proportion of patients with non-HFE HH might have been undiagnosed; therefore, awareness of this disorder is important.

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Presymptomatic Genetic Testing: Shifting the Emphasis from Reaction to Prevention

Hung

Carey

2011

Molecular Genetics and Personalized Medicine

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A 6-year survey of HFE gene test for hemochromatosis diagnosis

Cited by 9 publications

References 40 publications

A systematic review of the clinical validity and clinical utility of DNA testing for hereditary haemochromatosis type 1 in at-risk populations

A systematic review of the clinical validity and clinical utility of DNA testing for hereditary haemochromatosis type 1 in at-risk populations

The mechanisms of systemic iron homeostasis and etiology, diagnosis, and treatment of hereditary hemochromatosis

Presymptomatic Genetic Testing: Shifting the Emphasis from Reaction to Prevention

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