Description:
HEMOCHROMATOSIS; HFE
HOMEOSTATIC IRON REGULATOR; HFE
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Metal Metabolism |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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|
Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
|
|
Race
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
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Molecular characterization after cell line submission to CCR
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|
Species
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Homo sapiens
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|
Common Name
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Human
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|
Remarks
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|
| Gene |
HFE |
| Chromosomal Location |
6p22.2 |
| Allelic Variant 1 |
613609.0002; HEMOCHROMATOSIS |
| Identified Mutation |
HIS63ASP; A mutation caused by a C-to-G transversion in exon 2 results in a histidine to aspartic acid substitution at codon position 63 [his63asp (H63D)] in the HFE gene. |
| Remarks |
Diag at age 41; serum ferritin 1282ng/ml; serum iron 82 mcg/dl; transferrin saturation 33%; liver biopsy revealed marked deposition, but no fibrosis; 1 allele carries His63Asp mut (H63D) of HFE (HLAH) gene, 2nd is negative for C282Y and H63D mutation |
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