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Table 1 Overview of genes involved in Hereditary Haemochromatosis (HH)

From: Best practice guidelines for the molecular genetic diagnosis of Type 1 (HFE-related) hereditary haemochromatosis

  HFE-Related HH Juvenile HH TfR2-Related HH Ferroportin-Related HH
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
  1. AR: autosomal recessive; AD: autosomal dominant; OMIM: On-line Mendelian Inheritance in Man
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BMC Medical Genetics

ISSN: 1471-2350

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