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©2007 Baishideng Publishing Group Co.
World J Gastroenterol. Sep 21, 2007; 13(35): 4673-4689
Published online Sep 21, 2007. doi: 10.3748/wjg.v13.i35.4673
Published online Sep 21, 2007. doi: 10.3748/wjg.v13.i35.4673
Table 1 Nomenclature for iron overload states
Primary iron overload-hereditary haemochromatosis (HH) |
HFE-associated HH |
1 C282Y homozygosity |
2 C282Y/H63D compound heterozygosity |
3 Other mutations |
Non HFE-associated HH |
1 Juvenile haemochromatosis |
2 TfR2-related haemochromatosis |
3 Autosomal dominant haemochromatosis |
Secondary iron overload-acquired |
Iron-loading anaemias |
1 Thalassaemia major |
2 Sideroblastic anaemia |
3 Chronic haemolytic anaemias |
Chronic liver diseases |
1 Hepatitis C |
2 Alcoholic liver disease |
3 Non-alcoholic steatohepatitis |
4 Porphyria cutanea tarda |
5 IR-HIO |
6 Post-portacaval shunting |
7 Transfusional and parenteral iron overload |
8 Dietary iron overload |
Miscellaneous |
1 Iron overload in sub-Saharan Africa |
2 Neonatal iron overload |
3 Acaeruloplasminaemia |
4 Congenital atransferritinaemia |
Table 2 Studies of the relationship between chronic hepatitis C, iron and HFE mutations
Reference | Casesn | Ethnicity | HFErelationshipwith serumiron indices | HFErelationshipwith HI | HFErelationshipwith fibrosis |
[70] | 206 | Italian | Yes | Yes | Yes |
[83] | 120 | Mostly Swiss and Italian | No | No | No |
[88] | 242 | Mostly Caucasian | No | No | No |
[89] | 164 | Mostly Caucasian | No | No | No |
[90] | 137 | Caucasian | Yes | Yes | Yes |
[91] | 135 | Brazilian | Yes | Yes | Yes |
[92] | 119 | Mostly Caucasian, non-Hispanic | Yes | Yes | Yes |
[93] | 316 | Mostly White | Yes | Yes | Yes |
[94] | 401 | Mostly German | Yes | Yes | Yes |
[95] | 184 | White, non-Hispanic | Yes | No | No |
[96] | 273 | NA | Yes | Yes (only H63D) | No |
[97] | 1051 | Mostly White, non-Hispanic | Yes | Yes | No |
Table 3 Studies of the relationship between alcoholic liver disease, iron and HFE mutations
Reference | Casesn | Ethnicity | HFErelationship withserum iron indices | HFErelationshipwith HI | HFErelationshipwith ALD |
[120] | 257 | Caucasian | NA | No | No |
[121] | 254 | Caucasian | No | Yes | No |
[129] | 179 | White Hispanic | Yes (C282Y) | NA | No |
[130] | 61 | White, non- Hispanic | NA | NA | NA |
Table 4 Studies of the relationship between NAFLD-NASH, iron and HFE mutations
Reference | Casesn | Ethnicity | HFErelationshipwith serumiron indices | HFErelationshipwith HI | HFErelationshipwithfibrosis |
[139] | 51 | Australian | Yes with transferrin saturation, no with ferritin | Yes | Yes |
[142] | 31 | Italian | No | Yes | No |
[146] | 263 | Italian | Yes (C282Y) | No | No |
[151] | 57 | Caucasian | Yes | Yes | Yes |
[152] | 32 | Mostly Caucasian | No | No | No |
[153] | 38 | Asian | No | No | No |
[154] | 31 | Asian Indian | No | No | No |
[155] | 93 | Mostly Caucasian | No | Yes | No |
Table 5 Studies of the relationship between porphyria cutanea tarda, iron and HFE mutations
Reference | Casesn | Ethnicity | HFErelationshipwith serumiron indices | HFErelationshipwith HI | HFErelationshipwithfibrosis |
[163] | 41 | Caucasian | NA | NA | NA |
[164] | 108 | Australian | Yes | Yes | No |
[165] | 70 | North American | NA | NA | NA |
[167] | 23 | Brazilian | Yes | No | Yes |
[168] | 36 | Southern France | No | NA | NA |
[170] | 190 | German | No | No | No |
[172] | 68 | Italian | No | NA | NA |
[174] | 62 | German | Yes | NA | NA |
Table 6 Secondary iron overload: common features and differences
Common features |
1 Mixed distribution of hepatic iron (parenchymal and reticuloendothelial) |
2 Mild to moderate iron overload in most cases, rarely severe iron overload |
3 Phlebotomy possibly improves the course of disease and response to therapy |
Differences |
1 C282Y: accepted role in PCT, possible cofactor in CHC and NAFLD (especially in populations of Northern European descent) |
2 H63D: unclear role in NAFLD and PCT |
3 No role for HFE mutations in ALD or CHB |
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Citation: Sebastiani G, Walker AP.
HFE gene in primary and secondary hepatic iron overload. World J Gastroenterol 2007; 13(35): 4673-4689 - URL: https://www.wjgnet.com/1007-9327/full/v13/i35/4673.htm
- DOI: https://dx.doi.org/10.3748/wjg.v13.i35.4673