HFE-Related Hemochromatosis in a Chinese Patient: The First Reported Case

Frontiers in Genetics
Wei ZhangJidong Jia

Abstract

HFE-related Hemochromatosis is the most common genetic iron overload disease in European populations, particularly of Nordic or Celtic ancestry. It is reported that the HFE p.C282Y mutation is present in 1/10 people of northern European descent, resulting in one in two hundred people will be homozygous. However, the HFE p.C282Y heterozygosity is virtually absent among East Asians, including Japanese, Koreans, and Chinese. In this article, we report a case of HFE-related hemochromatosis caused by compound heterozygosity HFE p.C282Y/p.R71X. This is the first report of hemochromatosis associated with HFE p.C282Y mutation in China.

References

Aug 22, 2001·The American Journal of Gastroenterology·T SohdaT Ohkawara
Mar 21, 2002·Clinical Genetics·E BeutlerC West
Sep 21, 2002·Clinical Chemistry and Laboratory Medicine : CCLM·Soo Jin ChoiHyun Sook Chi
May 16, 2015·International Journal of Laboratory Hematology·P C Adams
Jul 15, 2015·European Journal of Human Genetics : EJHG·Graça PortoSteve Keeney
Mar 16, 2016·Lancet·Lawrie W PowellYves Deugnier
Nov 17, 2016·International Journal of Hematology·Katsuya IkutaYutaka Kohgo
Nov 19, 2017·La Presse médicale·Bernard LorcerieBernard Bonnotte
Mar 29, 2018·Hepatology International·Paul AdamsUNKNOWN Contributors and Hemochromatosis International Taskforce
Apr 6, 2018·Nature Reviews. Disease Primers·Pierre BrissotOlivier Loréal
Jul 25, 2019·The American Journal of Gastroenterology·Kris V KowdleyVinay Sundaram

❮ Previous
Next ❯

Citations

Sep 30, 2021·Orphanet Journal of Rare Diseases·Liyan WuJidong Jia

❮ Previous
Next ❯

Methods Mentioned

BETA
biopsy
PCR

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

Journal of Gastroenterology and Hepatology
G J AndersonL W Powell
Journal of Diabetes Research
J C Barton, R T Acton
The New England Journal of Medicine
Pietro E Cippà, Pierre-Alexandre Krayenbuehl
© 2021 Meta ULC. All rights reserved