{"id":"https://openalex.org/W47042922","doi":"https://doi.org/10.1182/blood.v72.2.530.530","title":"Delineation of the molecular basis of delta- and normal HbA2 beta- thalassemia","display_name":"Delineation of the molecular basis of delta- and normal HbA2 beta- thalassemia","publication_year":1988,"publication_date":"1988-08-01","ids":{"openalex":"https://openalex.org/W47042922","doi":"https://doi.org/10.1182/blood.v72.2.530.530","mag":"47042922","pmid":"https://pubmed.ncbi.nlm.nih.gov/3401592"},"language":"en","primary_location":{"id":"doi:10.1182/blood.v72.2.530.530","doi":"https://doi.org/10.1182/blood.v72.2.530.530","is_oa":true,"landing_page_url":"https://doi.org/10.1182/blood.v72.2.530.530","pdf_url":"https://ashpublications.org/blood/article-pdf/72/2/530/599928/530.pdf","source":{"id":"https://openalex.org/S200071133","display_name":"Blood","issn_l":"0006-4971","issn":["0006-4971","1528-0020"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Blood","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://ashpublications.org/blood/article-pdf/72/2/530/599928/530.pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5030084867","display_name":"Paolo Moi","orcid":"https://orcid.org/0000-0001-7879-8057","observed_orcids":["https://orcid.org/0000-0001-7879-8057"]},"institutions":[{"id":"https://openalex.org/I4210126296","display_name":"Ospedale Microcitemico","ror":"https://ror.org/03neybp41","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210126296"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"P Moi","raw_affiliation_strings":["Ospedale Regionale per le Microcitemie, Cagliari, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ospedale Regionale per le Microcitemie, Cagliari, Italy","institution_ids":["https://openalex.org/I4210126296"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072587846","display_name":"Elisabetta Paglietti","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210126296","display_name":"Ospedale Microcitemico","ror":"https://ror.org/03neybp41","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210126296"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"E Paglietti","raw_affiliation_strings":["Ospedale Regionale per le Microcitemie, Cagliari, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ospedale Regionale per le Microcitemie, Cagliari, Italy","institution_ids":["https://openalex.org/I4210126296"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039330421","display_name":"Adele Sanna","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210126296","display_name":"Ospedale Microcitemico","ror":"https://ror.org/03neybp41","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210126296"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"A Sanna","raw_affiliation_strings":["Ospedale Regionale per le Microcitemie, Cagliari, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ospedale Regionale per le Microcitemie, Cagliari, Italy","institution_ids":["https://openalex.org/I4210126296"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110000715","display_name":"C. Brancati","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210126296","display_name":"Ospedale Microcitemico","ror":"https://ror.org/03neybp41","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210126296"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"C Brancati","raw_affiliation_strings":["Ospedale Regionale per le Microcitemie, Cagliari, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ospedale Regionale per le Microcitemie, Cagliari, Italy","institution_ids":["https://openalex.org/I4210126296"]}]},{"author_position":"middle","author":{"id":null,"display_name":"A Tagarelli","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210126296","display_name":"Ospedale Microcitemico","ror":"https://ror.org/03neybp41","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210126296"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"A Tagarelli","raw_affiliation_strings":["Ospedale Regionale per le Microcitemie, Cagliari, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ospedale Regionale per le Microcitemie, Cagliari, Italy","institution_ids":["https://openalex.org/I4210126296"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109082964","display_name":"Renzo Galanello","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210126296","display_name":"Ospedale Microcitemico","ror":"https://ror.org/03neybp41","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210126296"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"R Galanello","raw_affiliation_strings":["Ospedale Regionale per le Microcitemie, Cagliari, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ospedale Regionale per le Microcitemie, Cagliari, Italy","institution_ids":["https://openalex.org/I4210126296"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113652341","display_name":"Antonio Cao","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210126296","display_name":"Ospedale Microcitemico","ror":"https://ror.org/03neybp41","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210126296"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"A Cao","raw_affiliation_strings":["Ospedale Regionale per le Microcitemie, Cagliari, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ospedale Regionale per le Microcitemie, Cagliari, Italy","institution_ids":["https://openalex.org/I4210126296"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5044538939","display_name":"Mario Pirastu","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210126296","display_name":"Ospedale Microcitemico","ror":"https://ror.org/03neybp41","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210126296"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"M Pirastu","raw_affiliation_strings":["Ospedale Regionale per le Microcitemie, Cagliari, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ospedale Regionale per le Microcitemie, Cagliari, Italy","institution_ids":["https://openalex.org/I4210126296"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I4210126296"],"apc_list":{"value":5500,"currency":"USD","value_usd":5500},"apc_paid":null,"fwci":3.2592,"has_fulltext":true,"cited_by_count":58,"citation_normalized_percentile":{"value":0.91661362,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":87,"max":97},"biblio":{"volume":"72","issue":"2","first_page":"530","last_page":"533"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10554","display_name":"Hemoglobinopathies and Related Disorders","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10554","display_name":"Hemoglobinopathies and Related Disorders","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T12094","display_name":"Hemoglobin structure and function","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1303","display_name":"Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10452","display_name":"Iron Metabolism and Disorders","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/delta-thalassemia","display_name":"delta-thalassemia","score":0.9789999723434448},{"id":"https://openalex.org/keywords/beta-thalassemia","display_name":"beta-thalassemia","score":0.8980000019073486},{"id":"https://openalex.org/keywords/hba2","display_name":"HbA2","score":0.9290000200271606},{"id":"https://openalex.org/keywords/delta-globin-gene","display_name":"delta-globin gene","score":0.7509999871253967},{"id":"https://openalex.org/keywords/cryptic-splice-site","display_name":"cryptic splice site","score":0.7649999856948853},{"id":"https://openalex.org/keywords/double-heterozygosity","display_name":"double heterozygosity","score":0.6439999938011169},{"id":"https://openalex.org/keywords/genetic-counseling","display_name":"genetic counseling","score":0.7680000066757202},{"id":"https://openalex.org/keywords/sardinians","display_name":"Sardinians","score":0.7089999914169312},{"id":"https://openalex.org/keywords/southern-italy","display_name":"Southern Italy","score":0.5450000166893005}],"concepts":[{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6466064453125},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5841916799545288},{"id":"https://openalex.org/C5072461","wikidata":"https://www.wikidata.org/wiki/Q49506","display_name":"Delta","level":2,"score":0.5203323364257812},{"id":"https://openalex.org/C2777799968","wikidata":"https://www.wikidata.org/wiki/Q185137","display_name":"Thalassemia","level":2,"score":0.5164394974708557},{"id":"https://openalex.org/C2777940137","wikidata":"https://www.wikidata.org/wiki/Q3616632","display_name":"Beta thalassemia","level":3,"score":0.46758437156677246},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.46202975511550903},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.45677676796913147},{"id":"https://openalex.org/C84597430","wikidata":"https://www.wikidata.org/wiki/Q106227","display_name":"Locus (genetics)","level":3,"score":0.4366081953048706},{"id":"https://openalex.org/C146978453","wikidata":"https://www.wikidata.org/wiki/Q3798668","display_name":"Aerospace engineering","level":1,"score":0.0},{"id":"https://openalex.org/C127413603","wikidata":"https://www.wikidata.org/wiki/Q11023","display_name":"Engineering","level":0,"score":0.0}],"mesh":[{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":"Q000032","qualifier_name":"analysis","is_major_topic":false},{"descriptor_ui":"D006441","descriptor_name":"Hemoglobin A","qualifier_ui":"Q000032","qualifier_name":"analysis","is_major_topic":true},{"descriptor_ui":"D006443","descriptor_name":"Hemoglobin A2","qualifier_ui":"Q000032","qualifier_name":"analysis","is_major_topic":true},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013789","descriptor_name":"Thalassemia","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D013789","descriptor_name":"Thalassemia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":4,"locations":[{"id":"doi:10.1182/blood.v72.2.530.530","doi":"https://doi.org/10.1182/blood.v72.2.530.530","is_oa":true,"landing_page_url":"https://doi.org/10.1182/blood.v72.2.530.530","pdf_url":"https://ashpublications.org/blood/article-pdf/72/2/530/599928/530.pdf","source":{"id":"https://openalex.org/S200071133","display_name":"Blood","issn_l":"0006-4971","issn":["0006-4971","1528-0020"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Blood","raw_type":"journal-article"},{"id":"doi:10.1182/blood.v72.2.530.bloodjournal722530","doi":"https://doi.org/10.1182/blood.v72.2.530.bloodjournal722530","is_oa":true,"landing_page_url":"https://doi.org/10.1182/blood.v72.2.530.bloodjournal722530","pdf_url":"https://ashpublications.org/blood/article-pdf/72/2/530/218010/530.pdf","source":{"id":"https://openalex.org/S200071133","display_name":"Blood","issn_l":"0006-4971","issn":["0006-4971","1528-0020"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Blood","raw_type":"journal-article"},{"id":"pmid:3401592","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/3401592","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Blood","raw_type":"Journal Article"},{"id":"pmh:oai:iris.unica.it:11584/35056","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/11584/35056","pdf_url":null,"source":{"id":"https://openalex.org/S4377196293","display_name":"UNICA IRIS Institutional Research Information System (University of Cagliari)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I172446870","host_organization_name":"University of Cagliari","host_organization_lineage":["https://openalex.org/I172446870"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"doi:10.1182/blood.v72.2.530.530","doi":"https://doi.org/10.1182/blood.v72.2.530.530","is_oa":true,"landing_page_url":"https://doi.org/10.1182/blood.v72.2.530.530","pdf_url":"https://ashpublications.org/blood/article-pdf/72/2/530/599928/530.pdf","source":{"id":"https://openalex.org/S200071133","display_name":"Blood","issn_l":"0006-4971","issn":["0006-4971","1528-0020"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Blood","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.5683000087738037,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W47042922.pdf","grobid_xml":"https://content.openalex.org/works/W47042922.grobid-xml"},"referenced_works_count":20,"referenced_works":["https://openalex.org/W36275155","https://openalex.org/W159624177","https://openalex.org/W316903149","https://openalex.org/W947450170","https://openalex.org/W1969671032","https://openalex.org/W2000538831","https://openalex.org/W2004144590","https://openalex.org/W2023374624","https://openalex.org/W2025450446","https://openalex.org/W2027770583","https://openalex.org/W2061980628","https://openalex.org/W2116950695","https://openalex.org/W2133561711","https://openalex.org/W2138270253","https://openalex.org/W2166256336","https://openalex.org/W2338971463","https://openalex.org/W2394720969","https://openalex.org/W2400821406","https://openalex.org/W2419616678","https://openalex.org/W3188742611"],"related_works":["https://openalex.org/W1997747621","https://openalex.org/W1494247780","https://openalex.org/W2072055213","https://openalex.org/W7036884209","https://openalex.org/W3188742611","https://openalex.org/W2275606635","https://openalex.org/W2130018355","https://openalex.org/W1970030726","https://openalex.org/W2430848319","https://openalex.org/W2090309899"],"abstract_inverted_index":{"In":[0],"this":[1,88,100,133],"study,":[2],"we":[3],"used":[4,155],"cloning":[5],"and":[6,31,79,135,174,193,211,216],"sequence":[7],"analysis":[8,53,153,215],"to":[9,138,156,187],"define":[10],"the":[11,32,42,55,64,95,105,114,130,145,158,161,180],"molecular":[12],"defect":[13],"in":[14,165,200],"two":[15],"delta-thalassemia":[16,192,198],"genes,":[17],"one":[18],"associated":[19],"with":[20,34,170],"reduced":[21],"output":[22],"of":[23,38,54,67,94,108,113,126,141,148,160,168,182,197,206],"delta-globin":[24],"chains":[25],"(delta":[26,45,70],"+thal)":[27],"from":[28,41,48,99],"a":[29,35,49,60,82,92,120,166],"Sardinian":[30],"other":[33],"complete":[36,139],"suppression":[37],"delta-chain":[39],"production":[40],"affected":[43],"locus":[44],"zerp":[46],"thal)":[47],"Southern":[50],"Italian.":[51],"Sequence":[52],"delta":[56,109,115,149,162],"+thal":[57],"gene":[58,118],"showed":[59],"G----T":[61],"substitution":[62,122],"at":[63,87,123,132],"first":[65],"nucleotide":[66],"codon":[68],"27":[69],"+27)":[71],"which":[72,128],"produces":[73],"an":[74],"amino":[75],"acid":[76],"change":[77],"(Ala----Ser)":[78],"presumably":[80],"activates":[81],"cryptic":[83],"splice":[84],"site":[85,134],"located":[86],"position.":[89],"Therefore,":[90],"only":[91],"fraction":[93],"transcript":[96],"is":[97],"processed":[98],"site,":[101],"as":[102],"indicated":[103],"by":[104,213],"clinical":[106,146],"phenotype":[107,147,173],"+thal.":[110],"DNA":[111,214],"sequencing":[112],"zero":[116,150],"thal":[117],"revealed":[119],"T----C":[121],"position":[124],"1":[125],"IVS-1,":[127],"abolishes":[129],"splicing":[131],"thus":[136,218],"leads":[137],"deficiency":[140],"normal":[142,175],"mRNA":[143],"explaining":[144],"thal.":[151],"Oligonucleotide":[152],"was":[154],"confirm":[157],"coinheritance":[159],"+27":[163],"mutation":[164],"group":[167],"Sardinians":[169],"thalassemia":[171],"like":[172],"HbA2":[176],"level":[177],"who,":[178],"on":[179],"basis":[181],"genetic":[183,220],"criteria,":[184],"were":[185],"supposed":[186],"be":[188],"double":[189,207],"heterozygous":[190],"for":[191,209],"beta-thalassemia.":[194],"The":[195],"definition":[196],"defects":[199],"each":[201],"high-risk":[202],"area":[203],"facilitates":[204],"identification":[205],"heterozygotes":[208],"delta-":[210],"beta-thalassemia":[212],"may":[217],"improve":[219],"counseling.":[221]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2014,"cited_by_count":3},{"year":2013,"cited_by_count":3},{"year":2012,"cited_by_count":2}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}