Table 1 |
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Overview of genes involved in Hereditary Haemochromatosis (HH) |
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HFE-Related HH |
Juvenile HH |
TfR2-Related HH |
Ferroportin-Related HH |
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OMIM Classification |
Type 1 |
Type 2, subtype A |
Type 2, subtype B |
Type 3 |
Type 4 |
|
OMIM # |
235200 |
608374 |
606464 |
604720 |
606069 |
|
Gene |
HFE (formerly HLA-H) |
HJV (formerly HFE2) |
HAMP |
TfR2 |
SLC4OA1 |
|
Gene Map Locus |
6p21.3 |
1q21 |
19q13.1 |
7q22 |
2q32 |
|
Gene Product |
HFE |
Haemojuvelin |
Hepcidin |
Transferrin Receptor 2 |
Ferroportin/Iron Regulatory Protein/Metal Transporter Protein |
|
Inheritance |
AR |
AR |
AR |
AR |
AD |
|
|
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AR: autosomal recessive; AD: autosomal dominant; OMIM: On-line Mendelian Inheritance in Man |
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King and Barton BMC Medical Genetics 2006 7:81 doi:10.1186/1471-2350-7-81 |
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