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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