Juvenile and Adult Hemochromatosis Are Distinct Genetic Disorders
Juvenile Hemochromatosis (JH) is a rare genetic disorder that causes iron overload. JH clinical features are similar to those of hemochromatosis (HFE), but the clinical course is more severe and is characterized by an earlier onset and by a prevalence of cardiac symptoms and endocrine dysfunctions....
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| Veröffentlicht in: | European journal of human genetics : EJHG 1997-11, Vol.5 (6), p.371-375 |
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| container_end_page | 375 |
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| container_title | European journal of human genetics : EJHG |
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| creator | Camaschella, C. Roetto, A. Cicilano, M. Pasquero, P. Bosio, S. Gubetta, L. Di Vito, F. Girelli, D. Tataro, A. Carella, M. Grifa, A. Gasparini, P. |
| description | Juvenile Hemochromatosis (JH) is a rare genetic disorder that causes iron overload. JH clinical features are similar to those of hemochromatosis (HFE), but the clinical course is more severe and is characterized by an earlier onset and by a prevalence of cardiac symptoms and endocrine dysfunctions. Here we describe seven Italian patients belonging to five unrelated families with clinical features typical of JH. In four out of five families the parents were consanguineous. Analysis of HFE gene mutations in all the cases and nucleotide sequence of the gene in one case excluded this gene as responsible for JH. Segregation analysis of 6p markers closely associated with HFE in families with consanguineous parents clearly showed that JH is unlinked to 6p and thus genetically distinct from HFE. |
| doi_str_mv | 10.1159/000484794 |
| format | Article |
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JH clinical features are similar to those of hemochromatosis (HFE), but the clinical course is more severe and is characterized by an earlier onset and by a prevalence of cardiac symptoms and endocrine dysfunctions. Here we describe seven Italian patients belonging to five unrelated families with clinical features typical of JH. In four out of five families the parents were consanguineous. Analysis of HFE gene mutations in all the cases and nucleotide sequence of the gene in one case excluded this gene as responsible for JH. Segregation analysis of 6p markers closely associated with HFE in families with consanguineous parents clearly showed that JH is unlinked to 6p and thus genetically distinct from HFE.</description><identifier>ISSN: 1018-4813</identifier><identifier>EISSN: 1476-5438</identifier><identifier>DOI: 10.1159/000484794</identifier><identifier>PMID: 9450181</identifier><language>eng</language><publisher>Basel, Switzerland</publisher><subject>Adolescent ; Adult ; Age Distribution ; Child ; Chromosomes, Human, Pair 6 - genetics ; Consanguinity ; Female ; Genetic Linkage ; Haplotypes - genetics ; Hemochromatosis - genetics ; Humans ; Iron Overload - pathology ; Italy ; Lod Score ; Male ; Original Paper ; Pedigree</subject><ispartof>European journal of human genetics : EJHG, 1997-11, Vol.5 (6), p.371-375</ispartof><rights>1997 S. Karger AG, Basel</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c331t-949fedd71095ca709f4af3e2cccc624c4ea997b97386a7c86f30cfd27a85930b3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9450181$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Camaschella, C.</creatorcontrib><creatorcontrib>Roetto, A.</creatorcontrib><creatorcontrib>Cicilano, M.</creatorcontrib><creatorcontrib>Pasquero, P.</creatorcontrib><creatorcontrib>Bosio, S.</creatorcontrib><creatorcontrib>Gubetta, L.</creatorcontrib><creatorcontrib>Di Vito, F.</creatorcontrib><creatorcontrib>Girelli, D.</creatorcontrib><creatorcontrib>Tataro, A.</creatorcontrib><creatorcontrib>Carella, M.</creatorcontrib><creatorcontrib>Grifa, A.</creatorcontrib><creatorcontrib>Gasparini, P.</creatorcontrib><title>Juvenile and Adult Hemochromatosis Are Distinct Genetic Disorders</title><title>European journal of human genetics : EJHG</title><addtitle>Eur J Hum Genet</addtitle><description>Juvenile Hemochromatosis (JH) is a rare genetic disorder that causes iron overload. JH clinical features are similar to those of hemochromatosis (HFE), but the clinical course is more severe and is characterized by an earlier onset and by a prevalence of cardiac symptoms and endocrine dysfunctions. Here we describe seven Italian patients belonging to five unrelated families with clinical features typical of JH. In four out of five families the parents were consanguineous. Analysis of HFE gene mutations in all the cases and nucleotide sequence of the gene in one case excluded this gene as responsible for JH. Segregation analysis of 6p markers closely associated with HFE in families with consanguineous parents clearly showed that JH is unlinked to 6p and thus genetically distinct from HFE.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Age Distribution</subject><subject>Child</subject><subject>Chromosomes, Human, Pair 6 - genetics</subject><subject>Consanguinity</subject><subject>Female</subject><subject>Genetic Linkage</subject><subject>Haplotypes - genetics</subject><subject>Hemochromatosis - genetics</subject><subject>Humans</subject><subject>Iron Overload - pathology</subject><subject>Italy</subject><subject>Lod Score</subject><subject>Male</subject><subject>Original Paper</subject><subject>Pedigree</subject><issn>1018-4813</issn><issn>1476-5438</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1997</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNptkD1PwzAQhi0EKqUwsIMUCQmJIWDHTmyPUVtaqkosMEeufYZAPoqdIPHvMUqViVvudM9zN7wIXRJ8T0gqHzDGTDAu2RGaEsazOGVUHIcZExEzQegpOvP-A-MAOZmgiWRpQGSK8k3_DU1ZQaQaE-Wmr7poDXWr311bq671pY9yB9Gi9F3Z6C5aQQNdqf8WrTPg_Dk6sarycHHoM_T6uHyZr-Pt8-ppnm9jTSnpYsmkBWM4wTLVimNpmbIUEh0qS5hmoKTkO8mpyBTXIrMUa2sSrkQqKd7RGbod_u5d-9WD74q69BqqSjXQ9r7gMmUZTVgQ7wZRu9Z7B7bYu7JW7qcguPiLqxjjCu714Wm_q8GM5iGfwK8G_qncG7iRj-c3_-LlZjEYxd5Y-guHtnld</recordid><startdate>19971101</startdate><enddate>19971101</enddate><creator>Camaschella, C.</creator><creator>Roetto, A.</creator><creator>Cicilano, M.</creator><creator>Pasquero, P.</creator><creator>Bosio, S.</creator><creator>Gubetta, L.</creator><creator>Di Vito, F.</creator><creator>Girelli, D.</creator><creator>Tataro, A.</creator><creator>Carella, M.</creator><creator>Grifa, A.</creator><creator>Gasparini, P.</creator><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>7X8</scope></search><sort><creationdate>19971101</creationdate><title>Juvenile and Adult Hemochromatosis Are Distinct Genetic Disorders</title><author>Camaschella, C. ; Roetto, A. ; Cicilano, M. ; Pasquero, P. ; Bosio, S. ; Gubetta, L. ; Di Vito, F. ; Girelli, D. ; Tataro, A. ; Carella, M. ; Grifa, A. ; Gasparini, P.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c331t-949fedd71095ca709f4af3e2cccc624c4ea997b97386a7c86f30cfd27a85930b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1997</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Age Distribution</topic><topic>Child</topic><topic>Chromosomes, Human, Pair 6 - genetics</topic><topic>Consanguinity</topic><topic>Female</topic><topic>Genetic Linkage</topic><topic>Haplotypes - genetics</topic><topic>Hemochromatosis - genetics</topic><topic>Humans</topic><topic>Iron Overload - pathology</topic><topic>Italy</topic><topic>Lod Score</topic><topic>Male</topic><topic>Original Paper</topic><topic>Pedigree</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Camaschella, C.</creatorcontrib><creatorcontrib>Roetto, A.</creatorcontrib><creatorcontrib>Cicilano, M.</creatorcontrib><creatorcontrib>Pasquero, P.</creatorcontrib><creatorcontrib>Bosio, S.</creatorcontrib><creatorcontrib>Gubetta, L.</creatorcontrib><creatorcontrib>Di Vito, F.</creatorcontrib><creatorcontrib>Girelli, D.</creatorcontrib><creatorcontrib>Tataro, A.</creatorcontrib><creatorcontrib>Carella, M.</creatorcontrib><creatorcontrib>Grifa, A.</creatorcontrib><creatorcontrib>Gasparini, P.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>European journal of human genetics : EJHG</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Camaschella, C.</au><au>Roetto, A.</au><au>Cicilano, M.</au><au>Pasquero, P.</au><au>Bosio, S.</au><au>Gubetta, L.</au><au>Di Vito, F.</au><au>Girelli, D.</au><au>Tataro, A.</au><au>Carella, M.</au><au>Grifa, A.</au><au>Gasparini, P.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Juvenile and Adult Hemochromatosis Are Distinct Genetic Disorders</atitle><jtitle>European journal of human genetics : EJHG</jtitle><addtitle>Eur J Hum Genet</addtitle><date>1997-11-01</date><risdate>1997</risdate><volume>5</volume><issue>6</issue><spage>371</spage><epage>375</epage><pages>371-375</pages><issn>1018-4813</issn><eissn>1476-5438</eissn><abstract>Juvenile Hemochromatosis (JH) is a rare genetic disorder that causes iron overload. JH clinical features are similar to those of hemochromatosis (HFE), but the clinical course is more severe and is characterized by an earlier onset and by a prevalence of cardiac symptoms and endocrine dysfunctions. Here we describe seven Italian patients belonging to five unrelated families with clinical features typical of JH. In four out of five families the parents were consanguineous. Analysis of HFE gene mutations in all the cases and nucleotide sequence of the gene in one case excluded this gene as responsible for JH. Segregation analysis of 6p markers closely associated with HFE in families with consanguineous parents clearly showed that JH is unlinked to 6p and thus genetically distinct from HFE.</abstract><cop>Basel, Switzerland</cop><pmid>9450181</pmid><doi>10.1159/000484794</doi><tpages>5</tpages></addata></record> |
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| ispartof | European journal of human genetics : EJHG, 1997-11, Vol.5 (6), p.371-375 |
| issn | 1018-4813 1476-5438 |
| language | eng |
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| source | MEDLINE; SpringerLink Journals; EZB-FREE-00999 freely available EZB journals |
| subjects | Adolescent Adult Age Distribution Child Chromosomes, Human, Pair 6 - genetics Consanguinity Female Genetic Linkage Haplotypes - genetics Hemochromatosis - genetics Humans Iron Overload - pathology Italy Lod Score Male Original Paper Pedigree |
| title | Juvenile and Adult Hemochromatosis Are Distinct Genetic Disorders |
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