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BioMed Research International
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2013
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Article
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Tab 1
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Review Article
An Update on Laboratory Diagnosis of Liver Inherited Diseases
Table 1
Types of hereditary hemochromatosis (HH) and genes involved.
Type of HH
Inheritance
Gene
Protein
Onset and phenotype
Type 1
AR
HFE
HFE
Adult, moderate
Type 2 A
AR
HJV
Hemojuvelin
Child, severe
Type 2 B
AR
HAMP
Hepcidin
Child, severe
Type 3
AR
TFR2
Transferrin receptor
Young adult, moderate
Type 4
AD
SLC40A1
Ferroportin
Adult, moderate
AR: autosomal recessive; AD: autosomal dominant.