HFE3

HFE3

Abbreviation for:
haemochromatosis type 3 (see there)
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
References in periodicals archive ?
Type 3 haemochromatosis (HFE3) is an autosomal recessive genetic disorder that leads to an accumulation of iron both in the blood and in several tissues, especially in the liver.
Studies on murine models of HFE3 have demonstrated that Tfr2[alpha] and Tfr2[beta] isoforms have distinct functions in iron homeostasis.
However, most workers in the field of iron metabolism do not approve with this classification because (a) it is neither genotypic nor phenotypic, but rather a mixture of the two; (b) it leaves no space for recently identified atypical cases that are related to combinations of sequence variations (106,148-152); (c) it sets up hypothetical genes, e.g., HFE1, HFE2, HFE3, and so forth, when its not really a gene family at all; and finally (d) there are also other forms of hemochromatosis that are not included in the OMIM classification (Table 2).