eISSN: 2084-9834
ISSN: 0034-6233
Reumatologia/Rheumatology
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6/2011
vol. 49
 
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abstract:
Review paper

Frequency of occurrence and relationship of known HFE gene mutations with phenotypes of selected rheumatic diseases

Danuta Siedzieniewska-Falkiewicz
,
Małgorzata Sochocka-Bykowska
,
Elżbieta Konkol-Szymik
,
Witold Tłustochowicz

Reumatologia 2011; 49, 6: 432–438
Online publish date: 2011/12/28
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Mutations in genes coding some proteins involved in iron metabolism in men are aetiological factors for diverse forms of hereditary haemochromatosis (HH). Over the last few years the relationship between their occurrence and prevalence and manifestation of diverse rheumatic diseases (mainly osteoarthralgia and rheumatoid arthritis – RA) has been investigated. Until now we have had no answer to the question whether there is a causal relationship between them. In this paper, current knowledge on hereditary haemochromatosis aetiology, and literature review on the relationship of hereditary haemochromatosis prevalence and phenotype of selected rheumatic disorders are briefly presented (Table I).
keywords:

haemochromatosis, iron metabolism disorders, rheumatic diseases



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