Algorithm for Screening for HFE-Associated Hemochromatosis - Flowchart

Algorithm for Screening for HFE-Associated Hemochromatosis - Flowchart

Algorithm for Screening for HFE-Associated Hemochromatosis - Flowchart

«Flowchart»

Start

Start

Start

Adult first-degree relative of pt with HH

Adult first-degree relative of pt with HH

Adult

Individual with suggestive symptoms (see text)

Individual with suggestive symptoms (see text)

Individual

Subjects with unexplained liver disease

Subjects with unexplained liver disease

Subjects

End

End

End

<Next Node>

<Next Node>

<Next Node>

<Next Node>

<Next Node>

<Next Node>

<Next Node>

<Next Node>

Reassure, possibly retest later

Reassure, possibly retest later

Reassure, possibly retest later

Counsel and consider non-HFE hemochromatosis

Counsel and consider non-HFE hemochromatosis

Counsel and consider non-HFE hemochromatosis

HFE

Phlebotomy

Phlebotomy

Phlebotomy

Phlebotomy

HFE genotype

HFE genotype

HFE genotype

HFE

Normal

Normal

Normal

C282Y homozygote
C282Y/h63D (Compound heterozygote)

C282Y homozygote
C282Y/h63D (Compound heterozygote)

C282Y homozygote

Serum ferritin — 300-1000 µg/L LFT normal

Serum ferritin — 300-1000 µg/L LFT normal

Serum ferritin — 300-1000 µg/L

Serum ferritin > 1000 µg/L and/or LFT abnormal

Serum ferritin > 1000 µg/L and/or LFT abnormal

Serum ferritin > 1000 µg/L

Serum ferritin <300 µg/L LFT normal

Serum ferritin <300 µg/L LFT normal

Serum ferritin <300 µg/L

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

Liver biopsy

Liver biopsy

Liver biopsy

Confirmed iron overload

Confirmed iron overload

Confirmed iron overload

No iron overload

No iron overload

No iron overload

^* For convenience both genotype and phenotype (iron tests) can be performed together at a single visit in first-degree relatives.

^* For convenience both genotype and phenotype (iron tests) can be performed together at a single visit in first-degree relatives.

^* For convenience both genotype and phenotype (iron tests) can be performed together at a single visit in first-degree relatives.

^*

Transferrin saturation and serum ferritin^*

Transferrin saturation and serum ferritin^*

Transferrin saturation and serum ferritin^*

^* ^*

TS 45% and/or SF >300 µgL

TS 45% and/or SF >300 µgL

TS >=45%

TS <45%
SF <300

TS <45%
SF <300

TS <45%

HH, hereditary hemochromatosis, homozygous subject (C282Y +/+); LFT, liver function tests; SF, serum ferritin concentration; TS, transferrin saturation.

HH, hereditary hemochromatosis, homozygous subject (C282Y +/+); LFT, liver function tests; SF, serum ferritin concentration; TS, transferrin saturation.

HH, hereditary hemochromatosis, homozygous subject (C282Y +/+); LFT, liver function tests; SF, serum ferritin concentration; TS, transferrin saturation.