Figure 1. Algorithm for Testing and Treatment of HH
Adult 1st degree
relative of HH
Asymptomatic
Step 1
Symptomatic
Serum transferrin saturation
and ferritin
Step 2
TS < 45% and
normal ferritin
TS ≥ 45% and/or
elevated ferritin
No further
evaluation
HFE Genotype
C282Y/C282Y
Step 3
Compound heterozygote
C282Y/H63D
C282Y heterozygote or
non-C282Y
Exclude other liver
or hematologic
desease
± Liver biopsy
Ferritin < 1000 mcg/L
and normal liver
enzymes
±
Therapeutic
phlebotomy
+
Ferritin > 1000 mcg/L
or elevated liver
enzymes
Liver biopsy for HIC
and histopathology
