LP19726-6
HFE gene.p.His63Asp
Active
Description
Hemochromatosis gene mutation causes Hereditary Hemochromatosis (HH) when serum transferrin-iron saturation results are elevated. HH is the most common autosomal recessive disease in the Caucasian population. HH causes excess iron absorption that leads to iron deposits in tissues and organs, eventually leading to organ dysfunction. Two point mutations in the HLA locus of chromosome 6 are responsible for the majority of HH cases-C282Y and H63D mutations. The S65C mutation is a mild mutation accounting for 1-4% of the carriers. Information from Wikipedia 2006 10 24. Source: Regenstrief Institute
Basic Part Properties
- Part Name
- HFE gene.p.His63Asp
- Part Display Name
- HFE gene p.His63Asp
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2000-05-04
- Construct for LOINC Short Name
- HFE p.H63D
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- CodeSystem lookup
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | HFE 基因.p.H63D Synonyms: HFE p.H63D |
| et-EE | Estonian (Estonia) | HFE geen.p.H63D |
| es-ES | Spanish (Spain) | Gen HFE p.H63D |
| it-IT | Italian (Italy) | HFE, gene.p.His63Asp Synonyms: Gene HFE p.His63Asp |
| tr-TR | Turkish (Turkey) | HFE geni.p.H63D |
| ru-RU | Russian (Russian Federation) | HFE ген.p.H63D |
| nl-NL | Dutch (Netherlands) | HFE-gen.p.H63D Synonyms: HFE gen.p.H63D |
LOINC Copyright
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