Identification of ferroportin disease in the Indian subcontinent
The majority of cases are associated with mutations in the HFE gene and inherited in an autosomal recessive manner. 1 Autosomal dominant forms of haemochromatosis have been reported, mainly associated with mutations in the ferroportin 1 gene. 2 This syndrome, termed type 4 haemochromatosis or more r...
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| Veröffentlicht in: | Gut 2005-04, Vol.54 (4), p.567-568 |
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| creator | Wallace, D F Browett, P Wong, P Kua, H Ameratunga, R Subramaniam, V N |
| description | The majority of cases are associated with mutations in the HFE gene and inherited in an autosomal recessive manner. 1 Autosomal dominant forms of haemochromatosis have been reported, mainly associated with mutations in the ferroportin 1 gene. 2 This syndrome, termed type 4 haemochromatosis or more recently ferroportin disease, 3 is usually characterised by an early increase in serum ferritin with normal transferrin saturation. [...]we have identified the V162del mutation of ferroportin 1 in a fifth geographical location, emphasising that this mutation is the most common and widely distributed mutation which causes non-HFE haemochromatosis. |
| doi_str_mv | 10.1136/gut.2004.060988 |
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[...]we have identified the V162del mutation of ferroportin 1 in a fifth geographical location, emphasising that this mutation is the most common and widely distributed mutation which causes non-HFE haemochromatosis.</description><subject>Adult</subject><subject>Anemia</subject><subject>Cation Transport Proteins - genetics</subject><subject>Family medical history</subject><subject>Female</subject><subject>ferroportin disease</subject><subject>Gene Deletion</subject><subject>haemochromatosis</subject><subject>Hemochromatosis - genetics</subject><subject>Hemoglobin</subject><subject>Humans</subject><subject>Indian subcontinent</subject><subject>Iron</subject><subject>iron overload</subject><subject>Letter</subject><subject>Mutation</subject><subject>Sri Lanka</subject><issn>0017-5749</issn><issn>1468-3288</issn><issn>1458-3288</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2005</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNqFkEtv1DAURi1ERYfCmh2KxA4p03tjO3Y2iGoEdNSKh3gtLceP1kMnHuwElX-PRxkVumJlS_d83706hDxDWCLS9vRqGpcNAFtCC52UD8gCWStr2kj5kCwAUNRcsO6YPM55AwBSdviIHCMXnHIOC_J6bd0wBh-MHkMcqugr71KKu5jGMFQ2ZKezq8p3vHbVerBBD1WeehNLaijRJ-TI65vsnh7eE_L17Zsvq_P68sO79erssu5Zi2ONDLGlDBoqhAbUIIQ1rWmQM0k9WGN6bRthgKPzknnLfEudxKaTtJPW0xPyau7dTf3WWVNWJ32jdilsdfqtog7q_mQI1-oq_lIoBCtOSsGLQ0GKPyeXR7WJUxrKzXukoxR5A4U6nSmTYs7J-bsNCGqvXBXlaq9czcpL4vm_h_3lD44LUM9AyKO7vZvr9EO1ggqu3n9bqfOPF-2nDj-r74V_OfP9dvPf7X8A5kuZcw</recordid><startdate>200504</startdate><enddate>200504</enddate><creator>Wallace, D F</creator><creator>Browett, P</creator><creator>Wong, P</creator><creator>Kua, H</creator><creator>Ameratunga, R</creator><creator>Subramaniam, V N</creator><general>BMJ Publishing Group Ltd and British Society of Gastroenterology</general><general>BMJ Publishing Group LTD</general><general>Copyright 2005 by Gut</general><scope>BSCLL</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>88I</scope><scope>8AF</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>BTHHO</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M2P</scope><scope>M7P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>Q9U</scope><scope>5PM</scope></search><sort><creationdate>200504</creationdate><title>Identification of ferroportin disease in the Indian subcontinent</title><author>Wallace, D F ; Browett, P ; Wong, P ; Kua, H ; Ameratunga, R ; Subramaniam, V N</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b461t-141163402377a01a077dc6c215483f0dccbad27c051ef84fd4f63e81298398df3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2005</creationdate><topic>Adult</topic><topic>Anemia</topic><topic>Cation Transport Proteins - genetics</topic><topic>Family medical history</topic><topic>Female</topic><topic>ferroportin disease</topic><topic>Gene Deletion</topic><topic>haemochromatosis</topic><topic>Hemochromatosis - genetics</topic><topic>Hemoglobin</topic><topic>Humans</topic><topic>Indian subcontinent</topic><topic>Iron</topic><topic>iron overload</topic><topic>Letter</topic><topic>Mutation</topic><topic>Sri Lanka</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Wallace, D F</creatorcontrib><creatorcontrib>Browett, P</creatorcontrib><creatorcontrib>Wong, P</creatorcontrib><creatorcontrib>Kua, H</creatorcontrib><creatorcontrib>Ameratunga, R</creatorcontrib><creatorcontrib>Subramaniam, V N</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Science Database (Alumni Edition)</collection><collection>STEM Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>BMJ Journals</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Science Database</collection><collection>Biological Science Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest Central Basic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Gut</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Wallace, D F</au><au>Browett, P</au><au>Wong, P</au><au>Kua, H</au><au>Ameratunga, R</au><au>Subramaniam, V N</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Identification of ferroportin disease in the Indian subcontinent</atitle><jtitle>Gut</jtitle><addtitle>Gut</addtitle><date>2005-04</date><risdate>2005</risdate><volume>54</volume><issue>4</issue><spage>567</spage><epage>568</epage><pages>567-568</pages><issn>0017-5749</issn><eissn>1468-3288</eissn><eissn>1458-3288</eissn><coden>GUTTAK</coden><abstract>The majority of cases are associated with mutations in the HFE gene and inherited in an autosomal recessive manner. 1 Autosomal dominant forms of haemochromatosis have been reported, mainly associated with mutations in the ferroportin 1 gene. 2 This syndrome, termed type 4 haemochromatosis or more recently ferroportin disease, 3 is usually characterised by an early increase in serum ferritin with normal transferrin saturation. [...]we have identified the V162del mutation of ferroportin 1 in a fifth geographical location, emphasising that this mutation is the most common and widely distributed mutation which causes non-HFE haemochromatosis.</abstract><cop>England</cop><pub>BMJ Publishing Group Ltd and British Society of Gastroenterology</pub><pmid>15753550</pmid><doi>10.1136/gut.2004.060988</doi><tpages>2</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Adult Anemia Cation Transport Proteins - genetics Family medical history Female ferroportin disease Gene Deletion haemochromatosis Hemochromatosis - genetics Hemoglobin Humans Indian subcontinent Iron iron overload Letter Mutation Sri Lanka |
| title | Identification of ferroportin disease in the Indian subcontinent |
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