Table 2. Candidate genes for... | American Society of Hematology

Table 2.

Candidate genes for modification of the hemochromatosis phenotype

Candidate gene	Deficiency model	References	Intestinal iron overload	Tissue iron overload	Microcytic anemia	Studies of the effect of polymorphisms
HFE	M, H	51-53	No	Yes	No	54
β2-Microglobulin	M	55	No	Yes		54
Transferrin receptor 1	M	56	No	Yes		57
Transferrin receptor 2	H	58	No	Yes		57,59-61
Transferrin	M, H	62,63	No	Yes	Yes	64
Heme oxygenase	M	65	No	Yes	Yes
Ceruloplasmin	H	66	No	Yes		67
DMT1 (nramp2)	M	68,69	No	No	Yes	70
Hephaestin(sla)	M	52,71	Yes	No	Yes
Ferritin light chain						67
Ferritin heavy chain	H			Yes		67,72
IRP1		73				67
IRP2	M	73,74		Yes		67
DHPR ferric reductase		75
IREG1(ferroportin)		76				67
Mobilferrin (calreticulin)		77				78

Candidate gene	Deficiency model	References	Intestinal iron overload	Tissue iron overload	Microcytic anemia	Studies of the effect of polymorphisms
HFE	M, H	51-53	No	Yes	No	54
β2-Microglobulin	M	55	No	Yes		54
Transferrin receptor 1	M	56	No	Yes		57
Transferrin receptor 2	H	58	No	Yes		57,59-61
Transferrin	M, H	62,63	No	Yes	Yes	64
Heme oxygenase	M	65	No	Yes	Yes
Ceruloplasmin	H	66	No	Yes		67
DMT1 (nramp2)	M	68,69	No	No	Yes	70
Hephaestin(sla)	M	52,71	Yes	No	Yes
Ferritin light chain						67
Ferritin heavy chain	H			Yes		67,72
IRP1		73				67
IRP2	M	73,74		Yes		67
DHPR ferric reductase		75
IREG1(ferroportin)		76				67
Mobilferrin (calreticulin)		77				78

M indicates mouse knockout or deficiency mutation; H, human deficiency.