Prevalence of HFE and TFR2 gene mutation in 118 Ligurian rheumatic patients.
OBJECTIVE
HFE gene is associated to haemochromatosis, an inherited autosomal recessive disorder responsible of an overload of iron in intestine, liver, pancreas, heart, cutis and joints. Articular and periarticular calcifications may occur. H63D mutation may play a role in the pathogenesis of rheumatoid arthritis.


METHODS
DNA of 118 consecutive patients (28 males, 90 females, mean age 58.5+/-13.44) living in Liguria and affected by different rheumatic diseases was examined to evaluate the presence of HFE mutations.


RESULTS
Analysis data showed that in 45% (53/118) of patients almost one mutation of HFE gene was present and the presence of H63D mutation in the rheumatic patients was particularly elevated. Data obtained in this study have permitted to reveal that 25 patients of 53 (47.1%) with 1 of 11 HFE mutations suffered from symptomatic or silent chondrocalcinosis.


CONCLUSIONS
The conclusion is drawn that this mutation may be correlated to various rheumatic diseases.
Rovetta
G
G
Istituto E. Bruzzone, Centro Reumatologico, Università degli Studi di Genova-DISEM, ASL3, Genova. bruzzone@unige.it
Monteforte
P
P
Buffrini
L
L
Grignolo
M C
MC
Franchin
F
F
D002805:Chondrocalcinosis / Q000235:genetics; D005260:Female; D006432:Hemochromatosis / Q000235:genetics; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D007558:Italy; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D011990:Receptors, Transferrin / Q000235:genetics*; D012216:Rheumatic Diseases / Q000235:genetics*
C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D011990:Receptors, Transferrin; C503640:TFR2 protein, human