Description:
HEMOCHROMATOSIS, NEONATAL
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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
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Race
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White
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Ethnicity
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PORTUGUESE
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Family Member
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4
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Relation to Proband
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mother
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Confirmation
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Clinical summary/Case history
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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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| HLA TYPING |
HLA type is A3,B44/A1,B27 (DR2,DR4) |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Remarks |
Clinically unaffected; 2 children have neonatal hemochromatosis; HLA type: A3, B44/A1,B27;DR2,DR4; normal levels of serum iron, iron binding capacity, transferrin & ferritin levels but persistently abnormal liver function tests |
| Driscoll, Neonatal hemochromatosis: Evidence for autosomal recessive transmission. Am J Hum Genet43 Sup:A232 (1988): 1988 |
| PubMed ID: |
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