Hb A2-MONREALE [δ146(HC3)His → Arg], A NOVEL δ CHAIN VARIANT DETECTED IN WEST SICILY
We report a novel mutation, Hb A2-Monreale [δ146(HC3)His → Arg], detected by cation exchange high performance liquid chromatography in a family from West Sicily. The mutation is due to a CA T → CGT substitution at codon 146 of the δ-globin gene. The two carriers had reduced levels of normal Hb A2 (1...
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| Veröffentlicht in: | Hemoglobin 2002, Vol.26 (1), p.1-5 |
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| creator | De Angioletti, Maria Di Girgenti, Caterina Messineo, Rosalia Capra, Marcello Carestia, Clementina |
| description | We report a novel mutation, Hb A2-Monreale [δ146(HC3)His → Arg], detected by cation exchange high performance liquid chromatography in a family from West Sicily. The mutation is due to a CA T → CGT substitution at codon 146 of the δ-globin gene. The two carriers had reduced levels of normal Hb A2 (1.1%), but comparable levels (0.9%) of the Hb A2 variant. Most likely the new variant has the same characteristics as Hb Cochin-Port Royal [β146(HC3)His → Arg], that is stable but has a 75% reduction of the Bohr effect. The finding of the new variant increases the genotype heterogeneity of the δ-globin gene in the Mediterranean area, and is relevant to the study and prevention of Cooley's Anemia. |
| doi_str_mv | 10.1081/HEM-120002934 |
| format | Article |
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The mutation is due to a CA T → CGT substitution at codon 146 of the δ-globin gene. The two carriers had reduced levels of normal Hb A2 (1.1%), but comparable levels (0.9%) of the Hb A2 variant. Most likely the new variant has the same characteristics as Hb Cochin-Port Royal [β146(HC3)His → Arg], that is stable but has a 75% reduction of the Bohr effect. 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The mutation is due to a CA T → CGT substitution at codon 146 of the δ-globin gene. The two carriers had reduced levels of normal Hb A2 (1.1%), but comparable levels (0.9%) of the Hb A2 variant. Most likely the new variant has the same characteristics as Hb Cochin-Port Royal [β146(HC3)His → Arg], that is stable but has a 75% reduction of the Bohr effect. The finding of the new variant increases the genotype heterogeneity of the δ-globin gene in the Mediterranean area, and is relevant to the study and prevention of Cooley's Anemia.</description><subject>Adult</subject><subject>Alleles</subject><subject>Amino Acid Substitution</subject><subject>beta-Thalassemia - diagnosis</subject><subject>beta-Thalassemia - epidemiology</subject><subject>Chromatography, High Pressure Liquid</subject><subject>Codon - genetics</subject><subject>DNA Mutational Analysis</subject><subject>False Positive Reactions</subject><subject>Female</subject><subject>Genotype</subject><subject>Globins - genetics</subject><subject>Hemoglobins, Abnormal - chemistry</subject><subject>Hemoglobins, Abnormal - genetics</subject><subject>Hemoglobins, Abnormal - isolation & purification</subject><subject>Humans</subject><subject>Male</subject><subject>Mass Screening</subject><subject>Middle Aged</subject><subject>Mutation, Missense</subject><subject>Point Mutation</subject><subject>Polymorphism, Restriction Fragment Length</subject><subject>Sicily - epidemiology</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>eNptkMtKxDAUhoMoOo4u3UpWomA1J2kyzbLUaAt1BrTeEAnpTSudqaYziC_gA_gs8xw-hE9ixQsIrg4cvu9ffAhtANkD4sF-qI4doIQQKpm7gHrAGXVcRi8XUY8wwRxChVxBq217TwjIAXGX0QqAZJIT0UOXYYp96hyPhifKjxW-fpuDK7bDgO2EVYvfX16xb29vdrGPh6NzFeO3OQ5CPxric_8k8ocJPlCJChJ1gLvfhTpN8GkURPHVGloqTd0W69-3j84OVRKETjw6igI_dioKcuoMgDJgBgzJeAl5wXOWCZZxl4iMM1Omucg55UakTAI3nuF5B5a5K3gqM9djfbT1tftgm8dZ0U71uGqzoq7NpGhmrR4A97gUpAM3v8FZOi5y_WCrsbHP-qdFB3hfQDUpGzs2T42tcz01z3VjS2smWdVqBkR_Ztdddv2bvVMHf9S7wtTTu8zYQt83MzvpAuj_zQ90M38C</recordid><startdate>2002</startdate><enddate>2002</enddate><creator>De Angioletti, Maria</creator><creator>Di Girgenti, Caterina</creator><creator>Messineo, Rosalia</creator><creator>Capra, Marcello</creator><creator>Carestia, Clementina</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>7X8</scope></search><sort><creationdate>2002</creationdate><title>Hb A2-MONREALE [δ146(HC3)His → Arg], A NOVEL δ CHAIN VARIANT DETECTED IN WEST SICILY</title><author>De Angioletti, Maria ; Di Girgenti, Caterina ; Messineo, Rosalia ; Capra, Marcello ; Carestia, Clementina</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-i219t-712313a1a0c5f1de5d3c63c5406c53afbd6d525a6b3915a8a5dc5ffd465b9c483</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2002</creationdate><topic>Adult</topic><topic>Alleles</topic><topic>Amino Acid Substitution</topic><topic>beta-Thalassemia - diagnosis</topic><topic>beta-Thalassemia - epidemiology</topic><topic>Chromatography, High Pressure Liquid</topic><topic>Codon - genetics</topic><topic>DNA Mutational Analysis</topic><topic>False Positive Reactions</topic><topic>Female</topic><topic>Genotype</topic><topic>Globins - genetics</topic><topic>Hemoglobins, Abnormal - chemistry</topic><topic>Hemoglobins, Abnormal - genetics</topic><topic>Hemoglobins, Abnormal - isolation & purification</topic><topic>Humans</topic><topic>Male</topic><topic>Mass Screening</topic><topic>Middle Aged</topic><topic>Mutation, Missense</topic><topic>Point Mutation</topic><topic>Polymorphism, Restriction Fragment Length</topic><topic>Sicily - epidemiology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>De Angioletti, Maria</creatorcontrib><creatorcontrib>Di Girgenti, Caterina</creatorcontrib><creatorcontrib>Messineo, Rosalia</creatorcontrib><creatorcontrib>Capra, Marcello</creatorcontrib><creatorcontrib>Carestia, Clementina</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><jtitle>Hemoglobin</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>De Angioletti, Maria</au><au>Di Girgenti, Caterina</au><au>Messineo, Rosalia</au><au>Capra, Marcello</au><au>Carestia, Clementina</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Hb A2-MONREALE [δ146(HC3)His → Arg], A NOVEL δ CHAIN VARIANT DETECTED IN WEST SICILY</atitle><jtitle>Hemoglobin</jtitle><addtitle>Hemoglobin</addtitle><date>2002</date><risdate>2002</risdate><volume>26</volume><issue>1</issue><spage>1</spage><epage>5</epage><pages>1-5</pages><issn>0363-0269</issn><eissn>1532-432X</eissn><abstract>We report a novel mutation, Hb A2-Monreale [δ146(HC3)His → Arg], detected by cation exchange high performance liquid chromatography in a family from West Sicily. The mutation is due to a CA T → CGT substitution at codon 146 of the δ-globin gene. The two carriers had reduced levels of normal Hb A2 (1.1%), but comparable levels (0.9%) of the Hb A2 variant. Most likely the new variant has the same characteristics as Hb Cochin-Port Royal [β146(HC3)His → Arg], that is stable but has a 75% reduction of the Bohr effect. The finding of the new variant increases the genotype heterogeneity of the δ-globin gene in the Mediterranean area, and is relevant to the study and prevention of Cooley's Anemia.</abstract><cop>England</cop><pub>Informa UK Ltd</pub><pmid>11939506</pmid><doi>10.1081/HEM-120002934</doi><tpages>5</tpages></addata></record> |
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| identifier | ISSN: 0363-0269 |
| ispartof | Hemoglobin, 2002, Vol.26 (1), p.1-5 |
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| language | eng |
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| source | Taylor & Francis; MEDLINE; Taylor & Francis Medical Library - CRKN |
| subjects | Adult Alleles Amino Acid Substitution beta-Thalassemia - diagnosis beta-Thalassemia - epidemiology Chromatography, High Pressure Liquid Codon - genetics DNA Mutational Analysis False Positive Reactions Female Genotype Globins - genetics Hemoglobins, Abnormal - chemistry Hemoglobins, Abnormal - genetics Hemoglobins, Abnormal - isolation & purification Humans Male Mass Screening Middle Aged Mutation, Missense Point Mutation Polymorphism, Restriction Fragment Length Sicily - epidemiology |
| title | Hb A2-MONREALE [δ146(HC3)His → Arg], A NOVEL δ CHAIN VARIANT DETECTED IN WEST SICILY |
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