LAMP HUMAN HEMOCHROMATOSIS KIT
| Format | References |
| 24 reactions | LC-HFE-LP-24 |
| 96 reactions | LC-HFE-LP-96 |
INTENDED USE
The LAMP Human Hemochromatosis KIT (rs1800562/rs1799945) allows for the qualitative detection of
homozygous or heterozygous C282Y and H63D polymorphism by Loop-mediated isothermal amplification of
DNA (LAMP) in a whole blood sample from patients. This CE-IVD assay is dedicated to professional use
in diagnostic laboratory. The device is not for self-testing.
DISEASE INFORMATION
Hemochromatosis, also known as iron overload, is caused by an accumulation of iron in the body, with
excessive storage of iron in the liver, skin, pancreas, heart, joints, and testes. In untreated
individuals, early symptoms may include: abdominal pain, weakness, lethargy, and weight loss; the risk of
cirrhosis is significantly increased when the serum ferritin is higher than 1,000 ng/mL; other findings
may include progressive increase in skin pigmentation, diabetes mellitus, congestive heart failure, and/or
arrhythmias, arthritis, and hypogonadism. The mutation or polymorphism most commonly associated with
hereditary hemochromatosis is C282Y. About 1/200 of people of Northern European origin have two copies of
this variant; they, particularly males, are at high risk. The H63D variant rarely causes clinical problems
in the homozygous or compound heterozygous ([Cys282Tyr]+[His63Asp]) state and is relatively common in the
heterozygous state in most populations. Considering the high frequency of heterozygotes for the C282Y and
H63D alleles, approximately one third of the northern European population is heterozygous for either one
or the other of these two variant alleles.