Causes of iron overload in blood donors – a clinical study

Laursen, Adam Hoegsbro; Bjerrum, Ole Weis; Friis‐Hansen, Lennart; Hansen, Torben Skov; Marott, Jacob Louis; Magnussen, Karin

doi:10.1111/vox.12619

Cited by 2 publications

(1 citation statement)

References 43 publications

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“…A limitation of the present study is also the lack of data for other mutations than C282 and H63. Although the C282 HFE mutation is the principal cause of HH, other mutations may also give rise to iron overload [21]. Another issue with the study design is the lack of standardization of test setting.…”

Section: Limitationsmentioning

confidence: 99%

Evaluation of a screening program for iron overload andHFE mutations in 50,493 blood donors

et al. 2020

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Early detection of individuals with hereditary hemochromatosis (HH) is important to manage iron levels and prevent future organ damage. Although the HFE mutations that cause most cases of HH have been identified, their geographic distribution is highly variable, and their contribution to iron overload is not fully understood. All new registered blood donors at the Sahlgrenska University hospital between 1998 and 2015 were included in the study. Donors with signs of iron overload at baseline and subsequent follow-up testing were recommended genotyping of the HFE gene. Of the 50,493 donors that were included in the study, 950 (1.9%) had signs of iron overload on both test occasions. Of the 840 donors with iron overload that performed HFE genotyping, 117 were homozygous for C282Y, and 97 were compound heterozygotes. The prevalence of C282Y homozygosity was 0.23%. Iron overload screening effectively detects individuals at risk of carrying the C282Y mutation of the HFE gene and enables early treatment to prevent HH complications.

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Section: Limitationsmentioning

confidence: 99%

Evaluation of a screening program for iron overload andHFE mutations in 50,493 blood donors

et al. 2020

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Genetic Diagnosis in Hereditary Hemochromatosis: Discovering and Understanding the Biological Relevance of Variants

et al. 2021

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Background Hereditary hemochromatosis (HH) is a genetic disease, leading to iron accumulation and possible organ damage. Patients are usually homozygous for p. Cys282Tyr in the homeostatic iron regulator gene but may have mutations in other genes involved in the regulation of iron. Next-generation sequencing is increasingly being utilized for the diagnosis of patients, leading to the discovery of novel genetic variants. The clinical significance of these variants is often unknown. Content Determining the pathogenicity of such variants of unknown significance is important for diagnostics and genetic counseling. Predictions can be made using in silico computational tools and population data, but additional evidence is required for a conclusive pathogenicity classification. Genetic disease models, such as in vitro models using cellular overexpression, induced pluripotent stem cells or organoids, and in vivo models using mice or zebrafish all have their own challenges and opportunities when used to model HH and other iron disorders. Recent developments in gene-editing technologies are transforming the field of genetic disease modeling. Summary In summary, this review addresses methods and developments regarding the discovery and classification of genetic variants, from in silico tools to in vitro and in vivo models, and presents them in the context of HH. It also explores recent gene-editing developments and how they can be applied to the discussed models of genetic disease.

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Causes of iron overload in blood donors – a clinical study

Cited by 2 publications

References 43 publications

Evaluation of a screening program for iron overload andHFE mutations in 50,493 blood donors

Evaluation of a screening program for iron overload andHFE mutations in 50,493 blood donors

Genetic Diagnosis in Hereditary Hemochromatosis: Discovering and Understanding the Biological Relevance of Variants

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