Appropriate Clinical Genetic Testing of Hemochromatosis Type 2–4, Including Ferroportin Disease

Figures & data

Table 1 Hereditary Hemochromatosis Subtypes, Genes Affected and Most Common Mutations

Hereditary Hemochromatosis Type	Most Common Mutation
Type 1A (HFE)	p.C282Y^Citation11
Type 1B (HFE)	p.C282Y/p.H63D^Citation11
Type 2A (HJV)	p.G320V^Citation16
Type 2B (HAMP)	Various
Type 3 (TFR2)	Various
Type 4A (FPN)	p.V162del,^Citation22 p.A77D^Citation8
Type 4B (FPN)	Various

Table 2 Available Testing for Non-HFE Related HH Subtypes, as of 6/22/21

Hereditary Hemochromatosis Type	Companies Available
Type 2A (HJV)	Blueprint Genetics,^Citation42 Fulgent,^Citation43 Invitae,^Citation44 Prevention Genetics,^Citation45 Ivami,^Citation46
Type 2B (HAMP)	Blueprint Genetics,^Citation42 Fulgent,^Citation43 Invitae,^Citation44 Prevention Genetics,^Citation45 Ivami,^Citation46
Type 3 (TFR2)	Blueprint Genetics,^Citation42 Invitae,^Citation44 Ivami,^Citation46 Prevention Genetics,^Citation45 Baylor Genetics Laboratory^Citation47
Type 4A (FPN)	Blueprint Genetics,^Citation42 Invitae,^Citation44 Ivami,^Citation46 Prevention Genetics^Citation45
Type 4B (FPN)	Blueprint Genetics,^Citation42 Invitae, Ivami,^Citation46 Prevention Genetics^Citation45

Figure 1 Flowchart for clinician approach to patients with unexplained iron overload.

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Invitae. Available from: https://www.invitae.com/en/physician/tests/05201/. Accessed July 20, 2021.

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Prevention Genetics. Available from: https://www.preventiongenetics.com/testInfo?val=Hereditary+Hemochromatosis+Panel. Accessed July 20, 2021.

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