Hemochromatosis

Question 1

Suite of hemochromatosis-related genes

Answer 1

Classical hemochromatosis: HFE (often C282Y)

Early onset hemochromatosis: HJV, TFR2, HAMP

Ferroportin-associated hemochromatosis: FPN

Ferroportin disease: FPN

Question 2

Most common HFE variant in hemochromatosis

Answer 2

C282Y

Autosomal recessive

Question 3

HJV

Answer 3

aka Hemojuvelin

Major cause of juvenile hemochromatosis (AR).

HJV acts as a coreceptor for BMP receptors – specifically, its action as a coreceptor for BMP6 controls hepcidin metabolism.

Pathogenic variants most common in families of Greek descent (G320V founder mutation).