caa a22 4500 378897985 CHVBK 20180305123511.0 cr unu---uuuuu 161128e20040216xx s 000 0 eng 10.1515/CCLM.2004.005 doi (NATIONALLICENCE)gruyter-10.1515/CCLM.2004.005 High prevalence of non-HFE gene-associated haemochromatosis in patients from southern Italy [Elektronische Daten] [F. De Marco, R. Liguori, M. G. Giardina, M. D'Armiento, E. Angelucci, A. Lucariello, R. Morante, L. Cimino, A. Galeota-Lanza, G. Tarantino, A. Ascione, G. Budillon, R. Vecchione, R. Martinelli, M. Matarazzo, V. De Simone] Hereditary haemochromatosis is an autosomal recessive disorder of iron regulation that results in abnormal intestinal iron absorption with progressive iron overloading of parenchymal cells. Two specific, single point mutations of the HFE gene (C282Y and H63D) have been described in haemochromatosis patients. Epidemiological studies have revealed a strict association between hereditary haemochromatosis and C282Y homozygosis or C282Y/H63D compound heterozygosis, suggesting that these mutations may provide a useful tool for diagnosis. However, recent investigations from southern Europe have reported lower allelic frequencies of the C282Y mutation among haemochromatosis patients, apparently depending on the geographical area of the population analysed. To assess the predictive value of the detection of the C282Y and H63D HFE mutations in our geographical area, we have evaluated their occurrence in 46 haemochromatosis patients from southern Italy. We found that only 19.6% of our patients were homozygous for the C282Y mutation and 21.7% were compound C282Y/H63D heterozygotes. Among the remaining 59%, approximately 40% did not display any of the known HFE mutations. We conclude that, in southern Italy, another genetic determinant/s must be responsible for many haemochromatosis cases and that a genetic screening for the C282Y and H63D HFE mutations is not sufficient for hereditary haemochromatosis diagnosis. Copyright © 2004 by Walter de Gruyter GmbH & Co. KG Medical equipment & techniques nationallicence Medical diagnosis nationallicence Diseases & disorders nationallicence Marco F. De aut Liguori R. aut Giardina M. G. aut D'Armiento M. aut Angelucci E. aut Lucariello A. aut Morante R. aut Cimino L. aut Galeota-Lanza A. aut Tarantino G. aut Ascione A. aut Budillon G. aut Vecchione R. aut Martinelli R. aut Matarazzo M. aut Simone V. De aut Clinical Chemistry and Laboratory Medicine Walter de Gruyter 42/1(2004-02-16), 17-24 1434-6621 42:1<17 2004 42 cclm https://doi.org/10.1515/CCLM.2004.005 text/html Onlinezugriff via DOI 1 research article jats NATIONALLICENCE 856 40 https://doi.org/10.1515/CCLM.2004.005 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Marco F. De aut NATIONALLICENCE 700 1- Liguori R. aut NATIONALLICENCE 700 1- Giardina M. G. aut NATIONALLICENCE 700 1- D'Armiento M. aut NATIONALLICENCE 700 1- Angelucci E. aut NATIONALLICENCE 700 1- Lucariello A. aut NATIONALLICENCE 700 1- Morante R. aut NATIONALLICENCE 700 1- Cimino L. aut NATIONALLICENCE 700 1- Galeota-Lanza A. aut NATIONALLICENCE 700 1- Tarantino G. aut NATIONALLICENCE 700 1- Ascione A. aut NATIONALLICENCE 700 1- Budillon G. aut NATIONALLICENCE 700 1- Vecchione R. aut NATIONALLICENCE 700 1- Martinelli R. aut NATIONALLICENCE 700 1- Matarazzo M. aut NATIONALLICENCE 700 1- Simone V. De aut NATIONALLICENCE 773 0- Clinical Chemistry and Laboratory Medicine Walter de Gruyter 42/1(2004-02-16), 17-24 1434-6621 42:1<17 2004 42 cclm CC0 http://creativecommons.org/publicdomain/zero/1.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-gruyter