Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content


Hot Topics of the Day|PHGKB
Search PHGKB:

Archive

Hot Topics of the Day are picked by experts to capture the latest information and publications on public health genomics and precision health for various diseases and health topics. Sources include published scientific literature, reviews, blogs and popular press articles.

Search Archive:
48 hot topic(s) found with the query "Hereditary hemochromatosis"

Population Screening for Hereditary Hemochromatosis
Video Webinar, UNC Precision Public Health Network, (Posted: Mar 20, 2024 7AM)

From the website: " Current data suggest that 1 in 300 non-Hispanic White individuals in the United States carry a genetic variation in the HFE gene (C282Y homozygosity) that accounts for most cases of hereditary hemochromatosis (HH). This variation can lead to iron overload and life-threatening complications, such as severe liver disease. However, complications are preventable with early diagnosis and periodic phlebotomies to remove excess iron from the body. In this CDC webinar, speakers discussed how knowledge about HH has evolved since the discovery of the HFE gene in 1997, current opportunities for clinical and public health action to prevent disease, and future research priorities to advance case detection and reduce clinical complications from HH. "

Haemochromatosis.
Paul C Adams et al. Lancet 2023 4 (Posted: May 21, 2023 3PM)

Haemochromatosis is one of the most common genetic diseases affecting patients of northern European ancestry. It is overdiagnosed in patients without iron overload and is underdiagnosed in many patients. Early diagnosis by genetic testing and therapy by periodic phlebotomy can prevent the most serious complications, which include liver cirrhosis, liver cancer, and death.

Diagnosis and Management of Hereditary Hemochromatosis.
Cabrera Elizabeth et al. JAMA 2022 11 (18) 1862-1863 (Posted: Nov 14, 2022 7AM)

Hereditary hemochromatosis (HH) is a heterogeneous genetic disorder that results in unregulated and excessive intestinal iron absorption leading to overabundance of iron deposition in tissue. HH is most common in people of northern European ancestry, for whom the prevalence is 1 case per 300 people. HH can be diagnosed using homeostatic iron regulator gene (HFE) testing in patients with biochemical or clinical iron overload. Phlebotomy is first-line therapy for HH and substantially lowers risk of morbidity and mortality.

Association of Genetic Variant Linked to Hemochromatosis With Brain Magnetic Resonance Imaging Measures of Iron and Movement Disorders.
Loughnan Robert et al. JAMA neurology 2022 8 (Posted: Aug 05, 2022 8AM)

In this cross-sectional study that included 836 participants, we found that individuals at high genetic risk for developing hemochromatosis had magnetic resonance imaging scans indicating substantial iron deposition localized to motor circuits of the brain. Further analysis of data for 488?288 individuals revealed that male individuals with high genetic risk for hemochromatosis (but not female individuals) were at 1.80-fold increased risk for developing a movement disorder, with the majority of these individuals not having a concurrent diagnosis for hemochromatosis.

Tier 1 Guidelines on Family-Based Screening for Hereditary Hemochromatosis
D Dotson et al, CDC Blog Post, March 12, 2021 Brand (Posted: Mar 14, 2021 0PM)

While our search identified no Tier 1 sources supporting population screening for HH, evidence-based guidelines do support Tier 1 designation for genetic counseling and testing of specific family members of people who are known to be p.C282Y homozygotes. The Tier 1 designation may also facilitate family-based awareness and diagnosis of HH and can influence clinical practice, as well as implementation research.

A survey of lifestyle habits, physician counseling, and direct-to consumer genetic testing in patients with hereditary hemochromatosis.
Koop Andree H et al. Clinics and research in hepatology and gastroenterology 2021 101658 (Posted: Mar 09, 2021 9AM)

Association of Hemochromatosis HFE p.C282Y Homozygosity With Hepatic Malignancy
JL Atkins et al, JAMA, November 24, 2020 (Posted: Nov 25, 2020 9AM)

In this cohort study that included 451?186 individuals, the risk of primary hepatic malignancy among 1294 male homozygous participants compared with men without pathogenic variants was 7.2% vs 0.6%, and the risk of all-cause death was 19.5% vs 15.1%; both differences were statistically significant. There were no statistically significant associations for women.

Are We Ready for Population Screening for Hereditary Hemochromatosis?
S Grosse et al, CDC Blog, September 28, 2020 Brand (Posted: Sep 28, 2020 11AM)

A CDC webinar calls attention to the large preventable burden of iron overload disease associated with HFE p.C282Y homozygosity. The natural history data presented here when paired with information on the effectiveness of phlebotomy for identified individuals can inform future discussions about population screening guidelines for HH.

Diagnosis and management of hereditary haemochromatosis.
Murphree Catherine R et al. Vox sanguinis 2020 Feb (Posted: Feb 26, 2020 8AM)

Hereditary Hemochromatosis: Are We Ready for Population Screening?
CDC Seminar, January 15, 2019 Brand (Posted: Dec 13, 2019 8AM)

The iron overload seen in hemochromatosis can be treated, and even prevented, through phlebotomy. However, many with the condition do not know they have it and are not treated until after the iron overload has caused permanent damage. Is it time for population-based screening for the C282Y mutation?

ACG Clinical Guideline: Hereditary Hemochromatosis.
Kowdley Kris V et al. The American journal of gastroenterology 2019 Jul (Posted: Jul 31, 2019 9AM)

Hereditary hemochromatosis is one of the most common genetic disorders among persons of northern European descent. There have been recent advances in the diagnosis, management, and treatment of HH. The availability of molecular diagnostic testing for HH has made possible confirmation of the diagnosis for most patients.

Are you the one in 200 with haemochromatosis?
(Posted: Feb 26, 2019 2PM)

Common genetic disorder found to cause serious disease and disability with age
National Institute on Aging, January 2019 Brand (Posted: Feb 03, 2019 10AM)

Common conditions associated with hereditary haemochromatosis genetic variants: cohort study in UK Biobank.
Pilling Luke C et al. BMJ (Clinical research ed.) 2019 Jan 364k5222 (Posted: Jan 23, 2019 2PM)

Common gene disorder causes serious “stealth” disease, but could be easily treated
UK Biobank, January 17,. 2019 (Posted: Jan 17, 2019 8AM)

Higher age at diagnosis of hemochromatosis is the strongest predictor of the occurrence of hepatocellular carcinoma in the Swiss hemochromatosis cohort: A prospective longitudinal observational study.
Nowak Albina et al. Medicine 2018 Oct 97(42) e12886 (Posted: Oct 24, 2018 10AM)

Hereditary Hemochromatosis
Hereditary hemochromatosis is a genetic disorder that can cause severe liver disease and other health problems Brand (Posted: Oct 23, 2018 4PM)

Reduced phenotypic expression in genetic hemochromatosis with time: role of exposure to nongenetic modifiers.
Deugnier Yves et al. Journal of hepatology 2018 Sep (Posted: Sep 26, 2018 10AM)

Identification of Genes for Hereditary Hemochromatosis.
Gerhard Glenn S et al. Methods in molecular biology (Clifton, N.J.) 2018 353-365 (Posted: Jul 16, 2018 8AM)

Phenotypic analysis of hemochromatosis subtypes reveals variations in severity of iron overload and clinical disease.
Sandhu Kam et al. Blood 2018 Jul (1) 101-110 (Posted: Jul 16, 2018 8AM)

Recommending inclusion of HFE C282Y homozygotes in the ACMG actionable gene list: cop-out or stealth move toward population screening?
AM Laberge, Genet Med, Oct 19, 2017 (Posted: Oct 20, 2017 9AM)

Hemochromatosis and blood donation.
Braseth Turid Aarhus et al. Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis 2017 Jun (3) 485-489 (Posted: Aug 07, 2017 8AM)

July is National Hemochromatosis Awareness Month
Brand (Posted: Aug 07, 2017 8AM)

Clinical penetrance in hereditary hemochromatosis: estimates of the cumulative incidence of severe liver disease among HFE C282Y homozygotes
SD Grosse et al. Genetics in Medicine, August 3, 2017 (Posted: Aug 03, 2017 2PM)

Clinical evaluation of a hemochromatosis next-generation sequencing gene panel.
Lanktree Matthew B et al. European journal of haematology 2017 Mar 98(3) 228-234 (Posted: Mar 01, 2017 10AM)

Practice Easily Missed: Hereditary haemochromatosis
BMJ, June 30, 2016 (Posted: Jul 05, 2016 7AM)

Online training course for providers
Brand (Posted: Dec 07, 2015 3PM)

Real Stories from People living with Hemochromatosis
Brand (Posted: Dec 07, 2015 3PM)

The global prevalence of HFE and non-HFE hemochromatosis estimated from analysis of next-generation sequencing data.
Wallace Daniel F et al. Genetics in medicine : official journal of the American College of Medical Genetics 2015 Dec (Posted: Dec 07, 2015 8AM)

Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network.
Gallego Carlos J et al. American journal of human genetics 2015 Oct (4) 512-20 (Posted: Dec 06, 2015 11AM)

HFE gene: Structure, function, mutations, and associated iron abnormalities.
Barton James C et al. Gene 2015 Dec (2) 179-92 (Posted: Dec 06, 2015 11AM)

Could 18F-FDG PET Be a Diagnostic Tool for Hemochromatosis?
Zanella Isabella et al. Clinical nuclear medicine 2015 Nov (Posted: Dec 06, 2015 11AM)

Hereditary Hemochromatosis.
Parkash Om et al. J Coll Physicians Surg Pak 2015 Sep (9) 644-7 (Posted: Sep 20, 2015 10PM)

A Systematic Review and Narrative Synthesis of Health Economic Studies Conducted for Hereditary Haemochromatosis.
de Graaff Barbara et al. Appl Health Econ Health Policy 2015 Aug 9. (Posted: Aug 11, 2015 3PM)

Causes of ferritin elevation.
Lippi Giuseppe et al. JAMA 2014 Dec 17. (23) 2572 (Posted: Jul 08, 2015 8AM)

Causes of ferritin elevation.
VanWagner Lisa B et al. JAMA 2014 Dec 17. (23) 2572 (Posted: Jul 08, 2015 8AM)

Improved detection of hereditary haemochromatosis.
Ogilvie Catherine et al. J. Clin. Pathol. 2015 Mar (3) 218-21 (Posted: Jul 08, 2015 8AM)

Genetic testing for hemochromatosis: diagnostic or confirmatory test for iron overload?
Adams Paul C et al. Can J Gastroenterol Hepatol 2015 Jan-Feb (1) 16-5 (Posted: Jul 08, 2015 8AM)

Examining the clinical use of hemochromatosis genetic testing.
Lanktree Matthew B et al. Can J Gastroenterol Hepatol 2015 Jan-Feb (1) 41-5 (Posted: Jul 08, 2015 8AM)

Corrigendum: Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.
Benyamin Beben et al. Nat Commun 2015 6542 (Posted: Jul 08, 2015 8AM)

Effect of C282Y genotype on self-reported musculoskeletal complications in hereditary hemochromatosis.
Camacho António et al. PLoS ONE 2015 (3) e0122817 (Posted: Jul 08, 2015 8AM)

Evaluation of a high throughput method for the detection of mutations associated with thrombosis and hereditary hemochromatosis in brazilian blood donors.
Dionisio Tavares Niewiadonski Vivian et al. PLoS ONE 2015 (5) e0125460 (Posted: Jul 08, 2015 8AM)

Epidemiology and diagnostic testing for hemochromatosis and iron overload.
Adams P C et al. Int J Lab Hematol 2015 May 25-30 (Posted: Jul 08, 2015 8AM)

Exome sequencing for molecular characterization of non-HFE hereditary hemochromatosis.
Farrell Colin P et al. Blood Cells Mol. Dis. 2015 Aug (2) 101-3 (Posted: Jul 08, 2015 8AM)

Update on iron metabolism and molecular perspective of common genetic and acquired disorder, hemochromatosis.
Yun Seongseok et al. Crit. Rev. Oncol. Hematol. 2015 Jul (1) 12-25 (Posted: Jul 08, 2015 8AM)

Recent advances in hemochromatosis: a 2015 update : a summary of proceedings of the 2014 conference held under the auspices of Hemochromatosis Australia.
Ekanayake Dilum et al. Hepatol Int 2015 Apr (2) 174-82 (Posted: Jul 08, 2015 8AM)

EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis
G Porto et al. Eur J Human Genetics, July 7, 2015 (Posted: Jul 08, 2015 8AM)

Hemochromatosis
From NHLBI health topic site Brand (Posted: Jan 11, 2014 11AM)

What Is Hemochromatosis (HE-mo-kro-ma-TO-sis) is a disease in which too much iron builds up in your body (iron overload). Iron is a mineral found in many foods. Too much iron is toxic to your body. It can poison your organs and cause organ failure. In hemochromatosis, iron can build up in most of your body's organs, but especially in the liver, heart, and pancreas. Too much iron in the liver can cause an enlarged liver, liver failure, liver cancer, or cirrhosis (sir-RO-sis). Cirrhosis is scarring of the liver, which causes the organ to not work well. Too much iron in the heart can cause irregular heartbeats called arrhythmias (ah-RITH-me-ahs) and heart failure. Too much iron in the pancreas can lead to diabetes. If hemochromatosis isn't treated, it may even cause death. Overview The two types of hemochromatosis are primary and secondary. Primary hemochromatosis is caused by a defect in the genes that control how much iron you absorb from food. Secondary hemochromatosis usually is the result of another disease or condition that causes iron overload. Most people who have primary hemochromatosis inherit it from their parents. If you inherit two hemochromatosis genes?one from each parent?you're at risk for iron overload and signs and symptoms of the disease. The two faulty genes cause your body to absorb more iron than usual from the foods you eat. Hemochromatosis is one of the most common genetic disorders in the United States. However, not everyone who has hemochromatosis has signs or symptoms of the disease. Estimates of how many people develop signs and symptoms vary greatly. Some estimates suggest that as many as half of all people who have the disease don't have signs or symptoms. The severity of hemochromatosis also varies. Some people don't have complications, even with high levels of iron in their bodies. Others have severe complications or die from the disease. Certain factors can affect the severity of the disease. For example, a high intake of vitamin C can make hemochromatosis worse. This is because vitamin C helps your body absorb iron from food. Alcohol use can worsen liver damage and cirrhosis caused by hemochromatosis. Conditions such as hepatitis also can further damage or weaken the liver. Outlook The outlook for people who have hemochromatosis largely depends on how much organ damage they have at the time of diagnosis. Early diagnosis and treatment of the disease are important. Treatment may help prevent, delay, or sometimes reverse complications of the disease. Treatment also may lead to better quality of life. For people who are diagnosed and treated early, a normal lifespan is possible. If left untreated, hemochromatosis can lead to severe organ damage and even death. ?Acquired hemochromatosis ?Classical hemochromatosis ?Genetic hemochromatosis ?Genetic iron poisoning ?Hereditary hemochromatosis ?Iron overload disease ?Primary hemochromatosis ?Secondary hemochromatosis


Disclaimer: Articles listed in Hot Topics of the Day are selected by Public Health Genomics Branch to provide current awareness of the scientific literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the Clips, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
TOP