Algorithm for Screening for HFE-Associated Hemochromatosis - Flowchart
Algorithm for Screening for HFE-Associated Hemochromatosis - Flowchart
«Flowchart»

Start

Start

Start

Family Member

Family Member

Family

Individual

Individual

Individual

General Population

General Population

General

Reassure, retest later?

Reassure, retest later?

Reassure, retest later?

Counsel and consider non-HFE hemochromatosis

Counsel and consider non-HFE hemochromatosis

Counsel and consider non-HFE hemochromatosis

HFE HFE

Serum ferritin, LFTs
Transferrin saturation

Serum ferritin, LFTs
Transferrin saturation

Serum ferritin, LFTs
Transferrin saturation


Phlebotomy

Phlebotomy

Phlebotomy

Phlebotomy

Observe, retest in 1–2 years

Observe, retest in 1–2 years

Observe, retest in 1–2 years

Investigate and treat as appropriate

Investigate and treat as appropriate

Investigate and treat as appropriate

End

End

End

HFE Genotype

HFE Genotype

HFE Genotype

HFE HFE

C282Y Homozygote
C282Y/H63D Heterozygote

C282Y Homozygote
C282Y/H63D Heterozygote


C282Y

Normal and other genotypes

Normal and other genotypes

Normal

Liver Biopsy

Liver Biopsy

Liver Biopsy

Confirmed iron overload

Confirmed iron overload

Confirmed

No iron overload

No iron overload

No iron

Serum ferritin <300 mg/L
LFTs normal

Serum ferritin <300 mg/L
LFTs normal

Serum ferritin <300 mg/L
LFTs normal


Transferrin saturation or unsaturated iron-binding capacity

Transferrin saturation or unsaturated iron-binding capacity

Transferrin saturation or unsaturated iron-binding capacity

TS ≥ 45%

TS ≥ 45%

≥ TS >= 45%

TS <45%

TS <45%

TS <45%

Serum ferritin = 300–1000 mg/L, LFTs normal

Serum ferritin = 300–1000 mg/L, LFTs normal

300-1000 mg/L

Serum ferritin >1000 mg/L and/or LFTs abnormal

Serum ferritin >1000 mg/L and/or LFTs abnormal

>1000 mg/L

Serum ferritin <300 mg/L
LFTs normal

Serum ferritin <300 mg/L
LFTs normal


<300 mg/L