Hereditary Hemochromatosis: Recent Insights - September 21, 2015

Genomics|Features|Hemochromatosis

Hereditary Hemochromatosis

Hereditary Hemochromatosis: Recent Insights - September 21, 2015

CDC Info

• Hemochromatosis (Iron Storage Disease)

Hereditary hemochromatosis.
Parkash O et al. J Coll Physicians Surg Pak2015 Sep (9) 644-7

Penetrance of hemochromatosis in HFE genotypes resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE network.
Gallego CJ et al. Am. J. Hum. Genet. 2015 Sep 9.

A systematic review and narrative synthesis of health economic studies conducted for hereditary haemochromatosis.
de Graaff B et al. Appl Health Econ Health Policy 2015 Aug 9.

EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis 
Porto G et al. Eur J Human Genetics, July 7, 2015

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

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

Exome sequencing for molecular characterization of non-HFE hereditary hemochromatosis.
Farrell CP et al. Blood Cells Mol. Dis. 2015 Aug (2) 101-3

Epidemiology and diagnostic testing for hemochromatosis and iron overload.
Adams PC et al. Int J Lab Hematol 2015 May 25-30

Evaluation of a high throughput method for the detection of mutations associated with thrombosis and hereditary hemochromatosis in Brazilian blood donors.
Dionisio Tavares NV et al. PLoS ONE 2015 (5) e0125460

Effect of C282Y genotype on self-reported musculoskeletal complications in hereditary hemochromatosis.
Camacho A et al. PLoS ONE 2015 (3) e0122817

Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.
Benyamin B et al. Nat Commun 2015 6542

Examining the clinical use of hemochromatosis genetic testing.
Lanktree MB et al. Can J Gastroenterol Hepatol 2015 Jan-Feb (1) 41-5

Genetic testing for hemochromatosis: diagnostic or confirmatory test for iron overload?
Adams PC et al. Can J Gastroenterol Hepatol 2015 Jan-Feb (1) 16-5

Improved detection of hereditary haemochromatosis.
Ogilvie C et al. J. Clin. Pathol. 2015 Mar (3) 218-21

Elevated serum ferritin.
VanWagner LB, et al. JAMA. 2014 Aug 20;312(7):743-4.

Causes of ferritin elevation.
VanWagner LB et al. JAMA 2014 Dec 17. (23) 2572

Causes of ferritin elevation.
Lippi Giuseppe et al. JAMA 2014 Dec 17. (23) 2572

Hereditary Hemochromatosis: Guidelines and Reviews - December 11, 2014

The quality of hereditary haemochromatosis guidelines: A comparative analysis 
Vanclooster A, et al. Clin Res Hepatol Gastroenterol 2014 Oct

Adult liver disorders caused by inborn errors of metabolism: Review and update.
Chanprasert S, Scaglia F. Mol Genet Metab. 2014 Nov 5. pii: S1096-7192(14)00337-0.

Diagnosis and Management of Hereditary Hemochromatosis.
Clin Liver Dis. 2015 Feb;19(1):187-198.

Emerging trends in hepatocellular carcinoma: focus on diagnosis and therapeutics.
Clin Med Insights Oncol. 2014 May 19;8:71-6

Hepatic iron overload and hepatocellular carcinoma.
Liver Cancer. 2014 Mar;3(1):31-40

Molecular basis of HFE-hemochromatosis.
Vujić M. Front Pharmacol. 2014 Mar 11;5:42.

Hereditary Hemochromatosis: Early Detection and Public Health - July 24, 2014

CDC pop quiz: How much do you know about hemochromatosis?

CDC information: Genetics can play a major role in hemochromatosis

US Preventive Services Task force recommended for cascade early detection in families of affected patients and against population screening

CDC information: If you're diagnosed with hereditary hemochromatosis, encourage immediate family to be tested for amount of iron in their blood

Learning about hereditary hemochromatosis, from the National Human Genome Research Institute

NIH Genetic Testing Registry: Find information about hereditary hemochromatosis clinical presentation, genetics and tests available