A new gene deletion in the α-like globin gene cluster as the molecular basis for the rare α-thalassemia-1(--/αα) in blacks: HbH disease in sickle cell trait
A novel deletion of at least 26 kilobase of DNA, including both alpha-globin genes, the psi alpha- and psi zeta-globin genes, but sparing the functional zeta-gene was found in a 10-year-old black boy with HbH disease and sickle cell trait. This particular deletion has not previously been described i...
Gespeichert in:
| Veröffentlicht in: | Blood 1986-02, Vol.67 (2), p.469-473 |
|---|---|
| Hauptverfasser: | , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 473 |
|---|---|
| container_issue | 2 |
| container_start_page | 469 |
| container_title | Blood |
| container_volume | 67 |
| creator | STEINBERG, M. H COLEMAN, M. B ADAMS, J. G. III HARTMANN, R. C SABA, H ANAGNOU, N. P |
| description | A novel deletion of at least 26 kilobase of DNA, including both alpha-globin genes, the psi alpha- and psi zeta-globin genes, but sparing the functional zeta-gene was found in a 10-year-old black boy with HbH disease and sickle cell trait. This particular deletion has not previously been described in blacks. Its existence makes it likely that the absence of Hb Barts hydrops fetalis in blacks is due to the rarity of the chromosome lacking two alpha-globin genes rather than a result of early embryonic death due to the failure to synthesize embryonic hemoglobins because of deletion of functional zeta-globin genes. |
| format | Article |
| fullrecord | <record><control><sourceid>pubmed_pasca</sourceid><recordid>TN_cdi_pubmed_primary_3942832</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>3942832</sourcerecordid><originalsourceid>FETCH-LOGICAL-p204t-64e540e3eb080328c56f46627cbd4a72f59bad1776d000f0c375faa8c39cea073</originalsourceid><addsrcrecordid>eNo9kEFOwzAURC0EKqVwBCQvWMDCwrEdJ2FXVUCRKrGBdfXt_LSmTlLZqRC34Qq9SM9ECBWrL72Z-SPNCRknqcgZ54KfkjHnXDNVZMk5uYjxg_NESZGOyEgWSuRSjMn3lDb4SVfYIC3RY-fahrqGdmukhz3zboN05VvTo8Fj_S52GCjEwVK3Hu3OQ6AGoou0asPAA4Qh363BQ4xYO2DJLWP3h_1hf_dbYDzYTXygczOnpYsIEX9xdHbj-xr0nnYBXHdJzirwEa-Od0Lenx7fZnO2eH1-mU0XbCu46phWmCqOEg3PuRS5TXWltBaZNaWCTFRpYaBMskyX_SgVtzJLK4DcysIi8ExOyPXf3-3O1Fgut8HVEL6Wx6V6_eaoQ7TgqwCNdfHflutcJ2kufwAmtXV4</addsrcrecordid><sourcetype>Index Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype></control><display><type>article</type><title>A new gene deletion in the α-like globin gene cluster as the molecular basis for the rare α-thalassemia-1(--/αα) in blacks: HbH disease in sickle cell trait</title><source>MEDLINE</source><source>EZB-FREE-00999 freely available EZB journals</source><source>Alma/SFX Local Collection</source><creator>STEINBERG, M. H ; COLEMAN, M. B ; ADAMS, J. G. III ; HARTMANN, R. C ; SABA, H ; ANAGNOU, N. P</creator><creatorcontrib>STEINBERG, M. H ; COLEMAN, M. B ; ADAMS, J. G. III ; HARTMANN, R. C ; SABA, H ; ANAGNOU, N. P</creatorcontrib><description>A novel deletion of at least 26 kilobase of DNA, including both alpha-globin genes, the psi alpha- and psi zeta-globin genes, but sparing the functional zeta-gene was found in a 10-year-old black boy with HbH disease and sickle cell trait. This particular deletion has not previously been described in blacks. Its existence makes it likely that the absence of Hb Barts hydrops fetalis in blacks is due to the rarity of the chromosome lacking two alpha-globin genes rather than a result of early embryonic death due to the failure to synthesize embryonic hemoglobins because of deletion of functional zeta-globin genes.</description><identifier>ISSN: 0006-4971</identifier><identifier>EISSN: 1528-0020</identifier><identifier>PMID: 3942832</identifier><language>eng</language><publisher>Washington, DC: The Americain Society of Hematology</publisher><subject>African Continental Ancestry Group ; Anemia, Sickle Cell - genetics ; Anemias. Hemoglobinopathies ; Biological and medical sciences ; Chromosome Deletion ; Diseases of red blood cells ; Genes ; Genetic Vectors ; Globins - biosynthesis ; Globins - genetics ; Hematologic and hematopoietic diseases ; Hemoglobin H - genetics ; Hemoglobin, Sickle - genetics ; Hemoglobins, Abnormal - genetics ; Humans ; Medical sciences ; Nucleic Acid Hybridization ; Pedigree ; Sickle Cell Trait - genetics ; Thalassemia - genetics</subject><ispartof>Blood, 1986-02, Vol.67 (2), p.469-473</ispartof><rights>1986 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>315,781,785</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=8686158$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/3942832$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>STEINBERG, M. H</creatorcontrib><creatorcontrib>COLEMAN, M. B</creatorcontrib><creatorcontrib>ADAMS, J. G. III</creatorcontrib><creatorcontrib>HARTMANN, R. C</creatorcontrib><creatorcontrib>SABA, H</creatorcontrib><creatorcontrib>ANAGNOU, N. P</creatorcontrib><title>A new gene deletion in the α-like globin gene cluster as the molecular basis for the rare α-thalassemia-1(--/αα) in blacks: HbH disease in sickle cell trait</title><title>Blood</title><addtitle>Blood</addtitle><description>A novel deletion of at least 26 kilobase of DNA, including both alpha-globin genes, the psi alpha- and psi zeta-globin genes, but sparing the functional zeta-gene was found in a 10-year-old black boy with HbH disease and sickle cell trait. This particular deletion has not previously been described in blacks. Its existence makes it likely that the absence of Hb Barts hydrops fetalis in blacks is due to the rarity of the chromosome lacking two alpha-globin genes rather than a result of early embryonic death due to the failure to synthesize embryonic hemoglobins because of deletion of functional zeta-globin genes.</description><subject>African Continental Ancestry Group</subject><subject>Anemia, Sickle Cell - genetics</subject><subject>Anemias. Hemoglobinopathies</subject><subject>Biological and medical sciences</subject><subject>Chromosome Deletion</subject><subject>Diseases of red blood cells</subject><subject>Genes</subject><subject>Genetic Vectors</subject><subject>Globins - biosynthesis</subject><subject>Globins - genetics</subject><subject>Hematologic and hematopoietic diseases</subject><subject>Hemoglobin H - genetics</subject><subject>Hemoglobin, Sickle - genetics</subject><subject>Hemoglobins, Abnormal - genetics</subject><subject>Humans</subject><subject>Medical sciences</subject><subject>Nucleic Acid Hybridization</subject><subject>Pedigree</subject><subject>Sickle Cell Trait - genetics</subject><subject>Thalassemia - genetics</subject><issn>0006-4971</issn><issn>1528-0020</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1986</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo9kEFOwzAURC0EKqVwBCQvWMDCwrEdJ2FXVUCRKrGBdfXt_LSmTlLZqRC34Qq9SM9ECBWrL72Z-SPNCRknqcgZ54KfkjHnXDNVZMk5uYjxg_NESZGOyEgWSuRSjMn3lDb4SVfYIC3RY-fahrqGdmukhz3zboN05VvTo8Fj_S52GCjEwVK3Hu3OQ6AGoou0asPAA4Qh363BQ4xYO2DJLWP3h_1hf_dbYDzYTXygczOnpYsIEX9xdHbj-xr0nnYBXHdJzirwEa-Od0Lenx7fZnO2eH1-mU0XbCu46phWmCqOEg3PuRS5TXWltBaZNaWCTFRpYaBMskyX_SgVtzJLK4DcysIi8ExOyPXf3-3O1Fgut8HVEL6Wx6V6_eaoQ7TgqwCNdfHflutcJ2kufwAmtXV4</recordid><startdate>19860201</startdate><enddate>19860201</enddate><creator>STEINBERG, M. H</creator><creator>COLEMAN, M. B</creator><creator>ADAMS, J. G. III</creator><creator>HARTMANN, R. C</creator><creator>SABA, H</creator><creator>ANAGNOU, N. P</creator><general>The Americain Society of Hematology</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope></search><sort><creationdate>19860201</creationdate><title>A new gene deletion in the α-like globin gene cluster as the molecular basis for the rare α-thalassemia-1(--/αα) in blacks: HbH disease in sickle cell trait</title><author>STEINBERG, M. H ; COLEMAN, M. B ; ADAMS, J. G. III ; HARTMANN, R. C ; SABA, H ; ANAGNOU, N. P</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p204t-64e540e3eb080328c56f46627cbd4a72f59bad1776d000f0c375faa8c39cea073</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1986</creationdate><topic>African Continental Ancestry Group</topic><topic>Anemia, Sickle Cell - genetics</topic><topic>Anemias. Hemoglobinopathies</topic><topic>Biological and medical sciences</topic><topic>Chromosome Deletion</topic><topic>Diseases of red blood cells</topic><topic>Genes</topic><topic>Genetic Vectors</topic><topic>Globins - biosynthesis</topic><topic>Globins - genetics</topic><topic>Hematologic and hematopoietic diseases</topic><topic>Hemoglobin H - genetics</topic><topic>Hemoglobin, Sickle - genetics</topic><topic>Hemoglobins, Abnormal - genetics</topic><topic>Humans</topic><topic>Medical sciences</topic><topic>Nucleic Acid Hybridization</topic><topic>Pedigree</topic><topic>Sickle Cell Trait - genetics</topic><topic>Thalassemia - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>STEINBERG, M. H</creatorcontrib><creatorcontrib>COLEMAN, M. B</creatorcontrib><creatorcontrib>ADAMS, J. G. III</creatorcontrib><creatorcontrib>HARTMANN, R. C</creatorcontrib><creatorcontrib>SABA, H</creatorcontrib><creatorcontrib>ANAGNOU, N. P</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><jtitle>Blood</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>STEINBERG, M. H</au><au>COLEMAN, M. B</au><au>ADAMS, J. G. III</au><au>HARTMANN, R. C</au><au>SABA, H</au><au>ANAGNOU, N. P</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A new gene deletion in the α-like globin gene cluster as the molecular basis for the rare α-thalassemia-1(--/αα) in blacks: HbH disease in sickle cell trait</atitle><jtitle>Blood</jtitle><addtitle>Blood</addtitle><date>1986-02-01</date><risdate>1986</risdate><volume>67</volume><issue>2</issue><spage>469</spage><epage>473</epage><pages>469-473</pages><issn>0006-4971</issn><eissn>1528-0020</eissn><abstract>A novel deletion of at least 26 kilobase of DNA, including both alpha-globin genes, the psi alpha- and psi zeta-globin genes, but sparing the functional zeta-gene was found in a 10-year-old black boy with HbH disease and sickle cell trait. This particular deletion has not previously been described in blacks. Its existence makes it likely that the absence of Hb Barts hydrops fetalis in blacks is due to the rarity of the chromosome lacking two alpha-globin genes rather than a result of early embryonic death due to the failure to synthesize embryonic hemoglobins because of deletion of functional zeta-globin genes.</abstract><cop>Washington, DC</cop><pub>The Americain Society of Hematology</pub><pmid>3942832</pmid><tpages>5</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0006-4971 |
| ispartof | Blood, 1986-02, Vol.67 (2), p.469-473 |
| issn | 0006-4971 1528-0020 |
| language | eng |
| recordid | cdi_pubmed_primary_3942832 |
| source | MEDLINE; EZB-FREE-00999 freely available EZB journals; Alma/SFX Local Collection |
| subjects | African Continental Ancestry Group Anemia, Sickle Cell - genetics Anemias. Hemoglobinopathies Biological and medical sciences Chromosome Deletion Diseases of red blood cells Genes Genetic Vectors Globins - biosynthesis Globins - genetics Hematologic and hematopoietic diseases Hemoglobin H - genetics Hemoglobin, Sickle - genetics Hemoglobins, Abnormal - genetics Humans Medical sciences Nucleic Acid Hybridization Pedigree Sickle Cell Trait - genetics Thalassemia - genetics |
| title | A new gene deletion in the α-like globin gene cluster as the molecular basis for the rare α-thalassemia-1(--/αα) in blacks: HbH disease in sickle cell trait |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-13T08%3A20%3A06IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-pubmed_pasca&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=A%20new%20gene%20deletion%20in%20the%20%CE%B1-like%20globin%20gene%20cluster%20as%20the%20molecular%20basis%20for%20the%20rare%20%CE%B1-thalassemia-1(--/%CE%B1%CE%B1)%20in%20blacks:%20HbH%20disease%20in%20sickle%20cell%20trait&rft.jtitle=Blood&rft.au=STEINBERG,%20M.%20H&rft.date=1986-02-01&rft.volume=67&rft.issue=2&rft.spage=469&rft.epage=473&rft.pages=469-473&rft.issn=0006-4971&rft.eissn=1528-0020&rft_id=info:doi/&rft_dat=%3Cpubmed_pasca%3E3942832%3C/pubmed_pasca%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_id=info:pmid/3942832&rfr_iscdi=true |