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News

Hemochromatosis susceptibility gene mutations may protect against iron deficiency in celiac disease

Hemochromatosis susceptibility genes may be protective against iron deficiency in celiac disease suggests a new study from researchers in the UK.

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Celiac disease and hereditary hemochromatosis are common HLA-defined conditions in north-western Europe.

Now researchers writing in the latest issue of Gastroenterology have attempted to determine if there is a genetic relationship between the two diseases.

They have also assessed whether hemochromatosis susceptibility (HFE) mutations are protective against iron deficiency in celiac disease.

The research team carried out polymerase chain reaction amplification using sequence specific primers capable of identifying the 2 HFE gene mutations (H63D and C282Y) and the HLA class 1 and II alleles to type 145 white patients with celiac disease and 187 matched controls.

Hemoglobin and fasting serum iron levels in celiac patients were measured at diagnosis.

A total of 70 celiac patients (48%) and 61 controls (33%) were identified as having HFE gene mutations H63D or C282Y.

HFE gene mutations - "common in celiac disease"
Gastroenterology

The C282Y mutation was associated with HLA-A*03 and B*07 alleles in controls and with A*01, A*03, B*08, and DRB1*0301 alleles in celiac patients.

The H63D mutation however, was associated with HLA-A*25 and DRB1*03 alleles in controls and A*29 and DRB1*03 alleles in celiac patients.

At diagnosis, celiac patients with the C282Y mutation had higher mean hemoglobin and fasting serum iron levels compared with the HFE wild type. This was not observed with the H63D mutation.

The research group concludes that in celiac disease HFE gene mutations are common and are in linkage disequilibrium with different HLA alleles compared with controls.

They add that "A disease-specific haplotype that carries C282Y and DQB1*02 is suggested", and propose that "HFE gene mutations provide a survival advantage by ameliorating the iron deficiency seen in celiac patients."

Gastroenterology 2002; 123(2): 444-449
01 August 2002

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