Hb L'Aquila [β106(G8)Leu→Val, CTG→GTG]: A Novel Thalassemic Hemoglobin Variant
A new β-globin variant at codon 106 (CTG→GTG), and which we named Hb L'Aquila [β106(G8)Leu→Val], was detected by DNA analysis. The proband and her father presented with the features of a mild β+-thalassemia (thal), confirmed by their α β-globin chain biosynthesis ratios.
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| Veröffentlicht in: | Hemoglobin 2007-01, Vol.31 (3), p.375-378 |
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| container_end_page | 378 |
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| container_issue | 3 |
| container_start_page | 375 |
| container_title | Hemoglobin |
| container_volume | 31 |
| creator | Amato, Antonio Pia Cappabianca, Maria Ponzini, Donatella Rinaldi, Silvana Di Biagio, Paola Foglietta, Enrica Grisanti, Paola Mastropietro, Fabrizio |
| description | A new β-globin variant at codon 106 (CTG→GTG), and which we named Hb L'Aquila [β106(G8)Leu→Val], was detected by DNA analysis. The proband and her father presented with the features of a mild β+-thalassemia (thal), confirmed by their α β-globin chain biosynthesis ratios. |
| doi_str_mv | 10.1080/03630260701462055 |
| format | Article |
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The proband and her father presented with the features of a mild β+-thalassemia (thal), confirmed by their α β-globin chain biosynthesis ratios.</description><subject>Adult</subject><subject>Amino Acid Substitution</subject><subject>beta-Thalassemia - genetics</subject><subject>DNA Mutational Analysis</subject><subject>Family Health</subject><subject>Female</subject><subject>Globins - genetics</subject><subject>Hemoglobin (Hb) variants</subject><subject>Hemoglobins, Abnormal - genetics</subject><subject>Humans</subject><subject>Pedigree</subject><subject>Point Mutation</subject><subject>splicing region</subject><subject>β-Thalassemia (thal)</subject><issn>0363-0269</issn><issn>1532-432X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2007</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kN9q1EAUhwdR7Lb6AN5IrvwDjZ6ZJDNJ9WZZbFZY9MK1CCLDyeTETZlk2pmk0hfwAfoofRAfwicxyy6ICL06B873-3H4GHvC4RWHHF5DIhMQEhTwVArIsntsxrNExGkivtxns-09noDigB2GcA7ACwXpQ3bAlcxSUNmMfVpW0er5_HJsLUZff91ykC_K_OWKxt8_b87QHkeLdTmt5br8dhLNow_uimy03qDFEKhrTbSkzn23rmr76Ax9i_3wiD1o0AZ6vJ9H7PPpu_ViGa8-lu8X81VsUkiHOCkwV7KgVOayrhWKQhQoeJEUKebTqihvGi4JyBiZVXVViUaaGnhOKKqsSo7Ys13vhXeXI4VBd20wZC325MagFahtp5pAvgONdyF4avSFbzv015qD3prU_5mcMk_35WPVUf03sVc3AW93QNs3znf4w3lb6wGvrfONx960QSd39b_5J74htMPGoCd97kbfT-Lu-O4PpnSS2g</recordid><startdate>20070101</startdate><enddate>20070101</enddate><creator>Amato, Antonio</creator><creator>Pia Cappabianca, Maria</creator><creator>Ponzini, Donatella</creator><creator>Rinaldi, Silvana</creator><creator>Di Biagio, Paola</creator><creator>Foglietta, Enrica</creator><creator>Grisanti, Paola</creator><creator>Mastropietro, Fabrizio</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>20070101</creationdate><title>Hb L'Aquila [β106(G8)Leu→Val, CTG→GTG]: A Novel Thalassemic Hemoglobin Variant</title><author>Amato, Antonio ; Pia Cappabianca, Maria ; Ponzini, Donatella ; Rinaldi, Silvana ; Di Biagio, Paola ; Foglietta, Enrica ; Grisanti, Paola ; Mastropietro, Fabrizio</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c404t-39a8769e4686dd7a2929a219394a829a7e8ff16e0ecc65bdbb2f6cd018ea2b5b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2007</creationdate><topic>Adult</topic><topic>Amino Acid Substitution</topic><topic>beta-Thalassemia - genetics</topic><topic>DNA Mutational Analysis</topic><topic>Family Health</topic><topic>Female</topic><topic>Globins - genetics</topic><topic>Hemoglobin (Hb) variants</topic><topic>Hemoglobins, Abnormal - genetics</topic><topic>Humans</topic><topic>Pedigree</topic><topic>Point Mutation</topic><topic>splicing region</topic><topic>β-Thalassemia (thal)</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Amato, Antonio</creatorcontrib><creatorcontrib>Pia Cappabianca, Maria</creatorcontrib><creatorcontrib>Ponzini, Donatella</creatorcontrib><creatorcontrib>Rinaldi, Silvana</creatorcontrib><creatorcontrib>Di Biagio, Paola</creatorcontrib><creatorcontrib>Foglietta, Enrica</creatorcontrib><creatorcontrib>Grisanti, Paola</creatorcontrib><creatorcontrib>Mastropietro, Fabrizio</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>Amato, Antonio</au><au>Pia Cappabianca, Maria</au><au>Ponzini, Donatella</au><au>Rinaldi, Silvana</au><au>Di Biagio, Paola</au><au>Foglietta, Enrica</au><au>Grisanti, Paola</au><au>Mastropietro, Fabrizio</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Hb L'Aquila [β106(G8)Leu→Val, CTG→GTG]: A Novel Thalassemic Hemoglobin Variant</atitle><jtitle>Hemoglobin</jtitle><addtitle>Hemoglobin</addtitle><date>2007-01-01</date><risdate>2007</risdate><volume>31</volume><issue>3</issue><spage>375</spage><epage>378</epage><pages>375-378</pages><issn>0363-0269</issn><eissn>1532-432X</eissn><abstract>A new β-globin variant at codon 106 (CTG→GTG), and which we named Hb L'Aquila [β106(G8)Leu→Val], was detected by DNA analysis. The proband and her father presented with the features of a mild β+-thalassemia (thal), confirmed by their α β-globin chain biosynthesis ratios.</abstract><cop>England</cop><pub>Informa UK Ltd</pub><pmid>17654075</pmid><doi>10.1080/03630260701462055</doi><tpages>4</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0363-0269 |
| ispartof | Hemoglobin, 2007-01, Vol.31 (3), p.375-378 |
| issn | 0363-0269 1532-432X |
| language | eng |
| recordid | cdi_proquest_miscellaneous_70729297 |
| source | MEDLINE; Taylor & Francis Medical Library - CRKN; Taylor & Francis Journals Complete |
| subjects | Adult Amino Acid Substitution beta-Thalassemia - genetics DNA Mutational Analysis Family Health Female Globins - genetics Hemoglobin (Hb) variants Hemoglobins, Abnormal - genetics Humans Pedigree Point Mutation splicing region β-Thalassemia (thal) |
| title | Hb L'Aquila [β106(G8)Leu→Val, CTG→GTG]: A Novel Thalassemic Hemoglobin Variant |
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