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HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis‐related morbidity

Overview of attention for article published in Hepatology, March 2009
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Title
HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis‐related morbidity
Published in
Hepatology, March 2009
DOI 10.1002/hep.22972
Pubmed ID
Authors

Lyle C. Gurrin, Nadine A. Bertalli, Gregory W. Dalton, Nicholas J. Osborne, Clare C. Constantine, Christine E. McLaren, Dallas R. English, Dorota M. Gertig, Martin B. Delatycki, Amanda J. Nicoll, Melissa C. Southey, John L. Hopper, Graham G. Giles, Gregory J. Anderson, John K. Olynyk, Lawrie W. Powell, Katrina J. Allen, HealthIron Study Investigators

Abstract

The risk of hemochromatosis-related morbidity is unknown among HFE compound heterozygotes (C282Y/H63D). We used a prospective population-based cohort study to estimate the prevalence of elevated iron indices and hemochromatosis-related morbidity for compound heterozygotes. In all, 31,192 subjects of northern European descent were genotyped for HFE C282Y and H63D. An HFE-genotype stratified random sample of 1,438 subjects, followed for an average of 12 years to a mean age of 65 years, completed questionnaires and gave blood. Clinical examinations were blinded to HFE genotype. A total of 180 (84 males) clinically examined C282Y/H63D participants were compared with 330 (149 males) controls with neither HFE mutation; 132 (65 males) and 270 (122 males), respectively, had serum iron measures at both timepoints. Mean serum ferritin (SF) and transferrin saturation (TS) were significantly greater for male and female compound heterozygotes than for wild-types at baseline and follow-up (all P < 0.02) except for females who were premenopausal at baseline, where SF was similar in both genotype groups. For subjects with serum measures from both baseline and follow-up, mean SF and TS levels did not change significantly for men or for postmenopausal women, but for premenopausal women SF levels increased from 43 to 109 microg/L for compound heterozygotes and from 35 to 64 microg/L for wild-types (both P < 0.001). Male and female compound heterozygotes had a similar prevalence of hemochromatosis-related morbidity to wild-types. One of 82 males and zero of 95 females had documented iron overload-related disease. Conclusion: For male compound heterozygotes, mean iron indices do not change during middle age but for female compound heterozygotes menopause results in increased mean SF. Although compound heterozygotes might maintain elevated iron indices during middle age, documented iron overload-related disease is rare.

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 66 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Spain 1 2%
Unknown 65 98%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 12 18%
Researcher 10 15%
Student > Postgraduate 7 11%
Other 6 9%
Student > Ph. D. Student 4 6%
Other 18 27%
Unknown 9 14%
Readers by discipline Count As %
Medicine and Dentistry 24 36%
Biochemistry, Genetics and Molecular Biology 10 15%
Agricultural and Biological Sciences 10 15%
Pharmacology, Toxicology and Pharmaceutical Science 2 3%
Linguistics 1 2%
Other 6 9%
Unknown 13 20%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 27 December 2013.
All research outputs
#17,302,400
of 25,394,764 outputs
Outputs from Hepatology
#7,317
of 9,095 outputs
Outputs of similar age
#92,929
of 108,418 outputs
Outputs of similar age from Hepatology
#72
of 81 outputs
Altmetric has tracked 25,394,764 research outputs across all sources so far. This one is in the 21st percentile – i.e., 21% of other outputs scored the same or lower than it.
So far Altmetric has tracked 9,095 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 10.4. This one is in the 13th percentile – i.e., 13% of its peers scored the same or lower than it.
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We're also able to compare this research output to 81 others from the same source and published within six weeks on either side of this one. This one is in the 3rd percentile – i.e., 3% of its contemporaries scored the same or lower than it.