Another possible mechanism may include mutations in hereditary hemochromatosis (
HFE) genes18 or co-existing [alpha]-thalassaemia mutations.
In 1996, two gene mutation of
HFE were found to be responsible for hemochromatosis i.e.
Caption: This image of Apollo 15's ALSEP setup shows the
HFE power box in the foreground.
'We strive to improve the quality of
hfe for those in our community," said Sergeant 1st Class Qwentina Rideoutt, community outreach program manager.
Hereditary hemochromatosis (HH) is a rare disorder related to mutations in the
HFE gene (1).
As alleles are essentially randomly assorted at conception, the
HFE genotypes will ideally only differ regarding iron stores and remain unaffected by confounding factors.
In July 2015, as part of the American Board of Internal Medicine Choosing Wisely initiative, the American College of Medical Genetics and Genomics advised against ordering
HFE genetic testing for patients without either iron overload or a family history of HFE-HH.
In summary, patients with TDT develop iron overload from frequent and necessary blood transfusion in addition to the increased absorption due to the increased erythropoietic requirement and potentially mutations in the
HFE gene.
[3] showed that conditional deletion of
HFE in the liver induces a hemochromatosis phenotype, while its conditional deletion in duodenal cells or macrophages does not have the same effect on iron metabolism.
The widespread adoption of
HFE genotyping to enhance hemochromatosis diagnosis after 1996 could partly explain the further decline in cirrhosis prevalence in nonscreening hemochromatosis index patients reported in 2000 [3] (Figure 3).
The availability of molecular genotyping of the
HFE gene highlights the paradox of a common mutation but a rare disease.
[16] looked at the age of onset between Parkinson's disease patients with no
HFE mutations or at least one mutation associated with hemochromatosis.