Hb O-TIBESTI [β121(GH4)Glu → Lys; β11(A8)Val → Ile], A HEMOGLOBIN VARIANT CARRYING IN THE SAME β CHAIN THE SUBSTITUTIONS OF Hb O-ARAB AND Hb HAMILTON, FOUND IN COMBINATION WITH Hb S [β6(A3)Glu → Val]
Hb O-Tibesti, carries in the same chain the substitution of Hb O-Arab [β121(GH4)Glu → Lys] and that of Hb Hamilton [β11(A8)Val → Ile]. Hb O-Tibesti may be distinguished from Hb O-Arab by polyacrylamide gel electrophoresis in the presence of urea and Triton-X100, and by reversed phase high performanc...
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| Veröffentlicht in: | Hemoglobin 2002-01, Vol.26 (1), p.13-20 |
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| container_title | Hemoglobin |
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| creator | Préhu, Claude Riou, Jean Sartelet, Isabelle Promé, Danielle Claparols, Catherine Denier, Mathias Motte, Jacques Galactéros, Frédéric Wajcman, Henri |
| description | Hb O-Tibesti, carries in the same chain the substitution of Hb O-Arab [β121(GH4)Glu → Lys] and that of Hb Hamilton [β11(A8)Val → Ile]. Hb O-Tibesti may be distinguished from Hb O-Arab by polyacrylamide gel electrophoresis in the presence of urea and Triton-X100, and by reversed phase high performance liquid chromatography. It was found in a compound heterozygous condition with Hb S [β6(A3)Glu → Val] in a child of Chad-Sudanese descent, suffering from a sickle cell syndrome. Compared to the classical description of the Hb S Hb O-Arab association, the additional Hb Hamilton mutation does not seem to modify the clinical presentation. |
| doi_str_mv | 10.1081/HEM-120002936 |
| format | Article |
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Hb O-Tibesti may be distinguished from Hb O-Arab by polyacrylamide gel electrophoresis in the presence of urea and Triton-X100, and by reversed phase high performance liquid chromatography. It was found in a compound heterozygous condition with Hb S [β6(A3)Glu → Val] in a child of Chad-Sudanese descent, suffering from a sickle cell syndrome. Compared to the classical description of the Hb S Hb O-Arab association, the additional Hb Hamilton mutation does not seem to modify the clinical presentation.</description><identifier>ISSN: 0363-0269</identifier><identifier>EISSN: 1532-432X</identifier><identifier>DOI: 10.1081/HEM-120002936</identifier><identifier>PMID: 11939508</identifier><language>eng</language><publisher>England: Informa UK Ltd</publisher><subject>Amino Acid Substitution ; Blood Protein Electrophoresis ; Chad - ethnology ; Child ; Chromatography, High Pressure Liquid ; France ; Globins - chemistry ; Globins - genetics ; Hemoglobin, Sickle - genetics ; Hemoglobins, Abnormal - chemistry ; Hemoglobins, Abnormal - genetics ; Hemoglobins, Abnormal - isolation & purification ; Heterozygote ; Humans ; Hydrophobic and Hydrophilic Interactions ; Male ; Sickle Cell Trait - genetics ; Sudan - ethnology</subject><ispartof>Hemoglobin, 2002-01, Vol.26 (1), p.13-20</ispartof><rights>2002 Informa UK Ltd All rights reserved: reproduction in whole or part not permitted 2002</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c386t-4cfc33ec8798249bec716f3ded9d01f50529c40754a13214e77fd0428cd8628d3</citedby><cites>FETCH-LOGICAL-c386t-4cfc33ec8798249bec716f3ded9d01f50529c40754a13214e77fd0428cd8628d3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.tandfonline.com/doi/pdf/10.1081/HEM-120002936$$EPDF$$P50$$Ginformahealthcare$$H</linktopdf><linktohtml>$$Uhttps://www.tandfonline.com/doi/full/10.1081/HEM-120002936$$EHTML$$P50$$Ginformahealthcare$$H</linktohtml><link.rule.ids>314,780,784,27924,27925,59647,59753,60436,60542,61221,61256,61402,61437</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11939508$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Préhu, Claude</creatorcontrib><creatorcontrib>Riou, Jean</creatorcontrib><creatorcontrib>Sartelet, Isabelle</creatorcontrib><creatorcontrib>Promé, Danielle</creatorcontrib><creatorcontrib>Claparols, Catherine</creatorcontrib><creatorcontrib>Denier, Mathias</creatorcontrib><creatorcontrib>Motte, Jacques</creatorcontrib><creatorcontrib>Galactéros, Frédéric</creatorcontrib><creatorcontrib>Wajcman, Henri</creatorcontrib><title>Hb O-TIBESTI [β121(GH4)Glu → Lys; β11(A8)Val → Ile], A HEMOGLOBIN VARIANT CARRYING IN THE SAME β CHAIN THE SUBSTITUTIONS OF Hb O-ARAB AND Hb HAMILTON, FOUND IN COMBINATION WITH Hb S [β6(A3)Glu → Val]</title><title>Hemoglobin</title><addtitle>Hemoglobin</addtitle><description>Hb O-Tibesti, carries in the same chain the substitution of Hb O-Arab [β121(GH4)Glu → Lys] and that of Hb Hamilton [β11(A8)Val → Ile]. Hb O-Tibesti may be distinguished from Hb O-Arab by polyacrylamide gel electrophoresis in the presence of urea and Triton-X100, and by reversed phase high performance liquid chromatography. It was found in a compound heterozygous condition with Hb S [β6(A3)Glu → Val] in a child of Chad-Sudanese descent, suffering from a sickle cell syndrome. Compared to the classical description of the Hb S Hb O-Arab association, the additional Hb Hamilton mutation does not seem to modify the clinical presentation.</description><subject>Amino Acid Substitution</subject><subject>Blood Protein Electrophoresis</subject><subject>Chad - ethnology</subject><subject>Child</subject><subject>Chromatography, High Pressure Liquid</subject><subject>France</subject><subject>Globins - chemistry</subject><subject>Globins - genetics</subject><subject>Hemoglobin, Sickle - genetics</subject><subject>Hemoglobins, Abnormal - chemistry</subject><subject>Hemoglobins, Abnormal - genetics</subject><subject>Hemoglobins, Abnormal - isolation & purification</subject><subject>Heterozygote</subject><subject>Humans</subject><subject>Hydrophobic and Hydrophilic Interactions</subject><subject>Male</subject><subject>Sickle Cell Trait - genetics</subject><subject>Sudan - ethnology</subject><issn>0363-0269</issn><issn>1532-432X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2002</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kc1u00AUhS0EoqGwZItmhVKphvnxz1isJsaxR3JsKXEKCFUjZzxWUzlxGceq8gJ9AB6FB0HiFXgSxk0oYtHVaI6-c-_RPZb1GsF3CFL0PolmNsIQQhwQ74k1Qi7BtkPw56fWCBKP2BB7wYn1ouuuIUSBD53n1glCAQlcSEfWr2QFcrvgk2hRcPD15w-E0ThOnLO46cHvu-8g3XcfgJHRmNGzi7K5F3mjLs8BA2Z5Hqf5hGfggs05ywoQsvn8C89iYLQiicCCzSLjB2HC_irLidlVLAueZwuQT8F9BDZnE8Cyj8MvYTOeFnl2Dqb50kjGGOYzs4UNHvCJF8mALYa83piRh7Am3-VL61ldNp16dXxPreU0KsLETvOYhyy1JaHeznZkLQlRkvoBxU6wUtJHXk0qVQUVRLULXRxIB_quUyKCkaN8v66gg6msqIdpRU6tt4e5N7r91qtuJzbrTqqmKbeq7TvhI5dSL6AGtA-g1G3XaVWLG73elHovEBRDh8KcUTx0aPg3x8H9aqOqf_SxNAPQA7De1q3elLetbiqxK_dNq2tdbuW6E-Sx2f5_1itVNrsrWWolrtteb83BHkn1B0gCsY4</recordid><startdate>20020101</startdate><enddate>20020101</enddate><creator>Préhu, Claude</creator><creator>Riou, Jean</creator><creator>Sartelet, Isabelle</creator><creator>Promé, Danielle</creator><creator>Claparols, Catherine</creator><creator>Denier, Mathias</creator><creator>Motte, Jacques</creator><creator>Galactéros, Frédéric</creator><creator>Wajcman, Henri</creator><general>Informa UK Ltd</general><general>Taylor & Francis</general><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>20020101</creationdate><title>Hb O-TIBESTI [β121(GH4)Glu → Lys; β11(A8)Val → Ile], A HEMOGLOBIN VARIANT CARRYING IN THE SAME β CHAIN THE SUBSTITUTIONS OF Hb O-ARAB AND Hb HAMILTON, FOUND IN COMBINATION WITH Hb S [β6(A3)Glu → Val]</title><author>Préhu, Claude ; Riou, Jean ; Sartelet, Isabelle ; Promé, Danielle ; Claparols, Catherine ; Denier, Mathias ; Motte, Jacques ; Galactéros, Frédéric ; Wajcman, Henri</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c386t-4cfc33ec8798249bec716f3ded9d01f50529c40754a13214e77fd0428cd8628d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2002</creationdate><topic>Amino Acid Substitution</topic><topic>Blood Protein Electrophoresis</topic><topic>Chad - ethnology</topic><topic>Child</topic><topic>Chromatography, High Pressure Liquid</topic><topic>France</topic><topic>Globins - chemistry</topic><topic>Globins - genetics</topic><topic>Hemoglobin, Sickle - genetics</topic><topic>Hemoglobins, Abnormal - chemistry</topic><topic>Hemoglobins, Abnormal - genetics</topic><topic>Hemoglobins, Abnormal - isolation & purification</topic><topic>Heterozygote</topic><topic>Humans</topic><topic>Hydrophobic and Hydrophilic Interactions</topic><topic>Male</topic><topic>Sickle Cell Trait - genetics</topic><topic>Sudan - ethnology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Préhu, Claude</creatorcontrib><creatorcontrib>Riou, Jean</creatorcontrib><creatorcontrib>Sartelet, Isabelle</creatorcontrib><creatorcontrib>Promé, Danielle</creatorcontrib><creatorcontrib>Claparols, Catherine</creatorcontrib><creatorcontrib>Denier, Mathias</creatorcontrib><creatorcontrib>Motte, Jacques</creatorcontrib><creatorcontrib>Galactéros, Frédéric</creatorcontrib><creatorcontrib>Wajcman, Henri</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>Hemoglobin</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Préhu, Claude</au><au>Riou, Jean</au><au>Sartelet, Isabelle</au><au>Promé, Danielle</au><au>Claparols, Catherine</au><au>Denier, Mathias</au><au>Motte, Jacques</au><au>Galactéros, Frédéric</au><au>Wajcman, Henri</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Hb O-TIBESTI [β121(GH4)Glu → Lys; β11(A8)Val → Ile], A HEMOGLOBIN VARIANT CARRYING IN THE SAME β CHAIN THE SUBSTITUTIONS OF Hb O-ARAB AND Hb HAMILTON, FOUND IN COMBINATION WITH Hb S [β6(A3)Glu → Val]</atitle><jtitle>Hemoglobin</jtitle><addtitle>Hemoglobin</addtitle><date>2002-01-01</date><risdate>2002</risdate><volume>26</volume><issue>1</issue><spage>13</spage><epage>20</epage><pages>13-20</pages><issn>0363-0269</issn><eissn>1532-432X</eissn><abstract>Hb O-Tibesti, carries in the same chain the substitution of Hb O-Arab [β121(GH4)Glu → Lys] and that of Hb Hamilton [β11(A8)Val → Ile]. Hb O-Tibesti may be distinguished from Hb O-Arab by polyacrylamide gel electrophoresis in the presence of urea and Triton-X100, and by reversed phase high performance liquid chromatography. It was found in a compound heterozygous condition with Hb S [β6(A3)Glu → Val] in a child of Chad-Sudanese descent, suffering from a sickle cell syndrome. Compared to the classical description of the Hb S Hb O-Arab association, the additional Hb Hamilton mutation does not seem to modify the clinical presentation.</abstract><cop>England</cop><pub>Informa UK Ltd</pub><pmid>11939508</pmid><doi>10.1081/HEM-120002936</doi><tpages>8</tpages></addata></record> |
| fulltext | fulltext |
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| ispartof | Hemoglobin, 2002-01, Vol.26 (1), p.13-20 |
| issn | 0363-0269 1532-432X |
| language | eng |
| recordid | cdi_crossref_primary_10_1081_HEM_120002936 |
| source | MEDLINE; Taylor & Francis Medical Library - CRKN; Taylor & Francis Journals Complete |
| subjects | Amino Acid Substitution Blood Protein Electrophoresis Chad - ethnology Child Chromatography, High Pressure Liquid France Globins - chemistry Globins - genetics Hemoglobin, Sickle - genetics Hemoglobins, Abnormal - chemistry Hemoglobins, Abnormal - genetics Hemoglobins, Abnormal - isolation & purification Heterozygote Humans Hydrophobic and Hydrophilic Interactions Male Sickle Cell Trait - genetics Sudan - ethnology |
| title | Hb O-TIBESTI [β121(GH4)Glu → Lys; β11(A8)Val → Ile], A HEMOGLOBIN VARIANT CARRYING IN THE SAME β CHAIN THE SUBSTITUTIONS OF Hb O-ARAB AND Hb HAMILTON, FOUND IN COMBINATION WITH Hb S [β6(A3)Glu → Val] |
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