Hb Ernz [beta123(H1)Thr-->Asn] and Hb Renert [beta133(H11)Val-->Ala]: two new neutral variants revealed by reversed phase high performance liquid chromatography analysis
Analysis of globin chains by reversed phase high performance liquid chromatography, used as an additional tool for characterizing hemoglobin variants, has led to the discovery of a new class of variants that display only differences in hydrophobicity. Two such variants are here described. Hb Ernz wa...
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| Veröffentlicht in: | Hemoglobin 2000-11, Vol.24 (4), p.287-297 |
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| container_title | Hemoglobin |
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| creator | Groff, P Kalmes, G Golinska, B Miyazaki, A Riou, J Carte, N Promé, D Kister, J Galactéros, F Wajcman, H |
| description | Analysis of globin chains by reversed phase high performance liquid chromatography, used as an additional tool for characterizing hemoglobin variants, has led to the discovery of a new class of variants that display only differences in hydrophobicity. Two such variants are here described. Hb Ernz was found in a man of Italian origin who was polycythemic, and in two of his three daughters who were hematologically normal. Hb Renert, a slightly unstable variant, was found in a man from Cape Verde who also carried Hb S and presented with chronic hemolysis. The structural abnormalities were characterized by protein structure methods involving reversed phase high performance liquid chromatographic separations of globins and peptides, followed by mass spectrometry studies (electrospray, ion trap, tandem mass spectrometry). |
| doi_str_mv | 10.3109/03630260008993135 |
| format | Article |
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Two such variants are here described. Hb Ernz was found in a man of Italian origin who was polycythemic, and in two of his three daughters who were hematologically normal. Hb Renert, a slightly unstable variant, was found in a man from Cape Verde who also carried Hb S and presented with chronic hemolysis. 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Two such variants are here described. Hb Ernz was found in a man of Italian origin who was polycythemic, and in two of his three daughters who were hematologically normal. Hb Renert, a slightly unstable variant, was found in a man from Cape Verde who also carried Hb S and presented with chronic hemolysis. The structural abnormalities were characterized by protein structure methods involving reversed phase high performance liquid chromatographic separations of globins and peptides, followed by mass spectrometry studies (electrospray, ion trap, tandem mass spectrometry).</description><subject>Chromatography, High Pressure Liquid</subject><subject>Hemoglobins, Abnormal - analysis</subject><subject>Hemoglobins, Abnormal - chemistry</subject><subject>Hemoglobins, Abnormal - genetics</subject><subject>Humans</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Pedigree</subject><subject>Point Mutation</subject><issn>0363-0269</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2000</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo1kEFLxDAQhXNQXF39AV4kJ9FDddKkbepBWGR1BUGQ1YvIMm1TW0nTmrS7rP_If2lW18Mwj8fHY-YRcszggjNIL4HHHMIYAGSacsajHbK_8QJvpiNy4NwHAEsTEHtkxBiTcRjJffI9y-jUmi_6mqkeWcjPZux8XtkguJ4480bRFNQjT8oo228hvoHY-QvqDaXx7Yr2q5YatfIz9BY1XaKt0fSOWrVUqFVBs_Wvts7rrkKnaFW_V7RTtmxtgyZXVNefQ13QvLJtg337brGr1v4C1GtXu0OyW6J26mi7x-T5djq_mQUPj3f3N5OHoAsh6QPJIwEiT1mGQviHIsZiEUeSgRSyUBDKKIvKvMQwzBLfVS7KJIlECaVMi0IgH5PTv9zOtp-Dcv2iqV2utEaj2sEtEh8JwFMPnmzBIWtUsehs3aBdL_7L5T8BvnkU</recordid><startdate>200011</startdate><enddate>200011</enddate><creator>Groff, P</creator><creator>Kalmes, G</creator><creator>Golinska, B</creator><creator>Miyazaki, A</creator><creator>Riou, J</creator><creator>Carte, N</creator><creator>Promé, D</creator><creator>Kister, J</creator><creator>Galactéros, F</creator><creator>Wajcman, H</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope></search><sort><creationdate>200011</creationdate><title>Hb Ernz [beta123(H1)Thr-->Asn] and Hb Renert [beta133(H11)Val-->Ala]: two new neutral variants revealed by reversed phase high performance liquid chromatography analysis</title><author>Groff, P ; Kalmes, G ; Golinska, B ; Miyazaki, A ; Riou, J ; Carte, N ; Promé, D ; Kister, J ; Galactéros, F ; Wajcman, H</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p207t-835404c91ba44a125116465810848de0285b5fcfa22b7089c4f7754f0f89dd4a3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2000</creationdate><topic>Chromatography, High Pressure Liquid</topic><topic>Hemoglobins, Abnormal - analysis</topic><topic>Hemoglobins, Abnormal - chemistry</topic><topic>Hemoglobins, Abnormal - genetics</topic><topic>Humans</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Pedigree</topic><topic>Point Mutation</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Groff, P</creatorcontrib><creatorcontrib>Kalmes, G</creatorcontrib><creatorcontrib>Golinska, B</creatorcontrib><creatorcontrib>Miyazaki, A</creatorcontrib><creatorcontrib>Riou, J</creatorcontrib><creatorcontrib>Carte, N</creatorcontrib><creatorcontrib>Promé, D</creatorcontrib><creatorcontrib>Kister, J</creatorcontrib><creatorcontrib>Galactéros, F</creatorcontrib><creatorcontrib>Wajcman, H</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>Groff, P</au><au>Kalmes, G</au><au>Golinska, B</au><au>Miyazaki, A</au><au>Riou, J</au><au>Carte, N</au><au>Promé, D</au><au>Kister, J</au><au>Galactéros, F</au><au>Wajcman, H</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Hb Ernz [beta123(H1)Thr-->Asn] and Hb Renert [beta133(H11)Val-->Ala]: two new neutral variants revealed by reversed phase high performance liquid chromatography analysis</atitle><jtitle>Hemoglobin</jtitle><addtitle>Hemoglobin</addtitle><date>2000-11</date><risdate>2000</risdate><volume>24</volume><issue>4</issue><spage>287</spage><epage>297</epage><pages>287-297</pages><issn>0363-0269</issn><abstract>Analysis of globin chains by reversed phase high performance liquid chromatography, used as an additional tool for characterizing hemoglobin variants, has led to the discovery of a new class of variants that display only differences in hydrophobicity. 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| ispartof | Hemoglobin, 2000-11, Vol.24 (4), p.287-297 |
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| source | MEDLINE; Taylor & Francis Medical Library - CRKN; Taylor & Francis Journals Complete |
| subjects | Chromatography, High Pressure Liquid Hemoglobins, Abnormal - analysis Hemoglobins, Abnormal - chemistry Hemoglobins, Abnormal - genetics Humans Male Middle Aged Pedigree Point Mutation |
| title | Hb Ernz [beta123(H1)Thr-->Asn] and Hb Renert [beta133(H11)Val-->Ala]: two new neutral variants revealed by reversed phase high performance liquid chromatography analysis |
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