{"id":"https://openalex.org/W2058098871","doi":"https://doi.org/10.1159/000152610","title":"Double Heterozygosity for \u03b1- and \u03b2-Microcytemias","display_name":"Double Heterozygosity for \u03b1- and \u03b2-Microcytemias","publication_year":1973,"publication_date":"1973-01-01","ids":{"openalex":"https://openalex.org/W2058098871","doi":"https://doi.org/10.1159/000152610","mag":"2058098871","pmid":"https://pubmed.ncbi.nlm.nih.gov/4132092"},"language":"en","primary_location":{"id":"doi:10.1159/000152610","doi":"https://doi.org/10.1159/000152610","is_oa":false,"landing_page_url":"https://doi.org/10.1159/000152610","pdf_url":null,"source":{"id":"https://openalex.org/S97696616","display_name":"Human Heredity","issn_l":"0001-5652","issn":["0001-5652","1423-0062"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-4"],"host_organization":"https://openalex.org/P4310317820","host_organization_name":"Karger Publishers","host_organization_lineage":["https://openalex.org/P4310317820"],"host_organization_lineage_names":["Karger Publishers"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Heredity","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":null,"display_name":"B. Bianco","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I861853513","display_name":"Sapienza University of Rome","ror":"https://ror.org/02be6w209","country_code":"IT","type":"education","lineage":["https://openalex.org/I861853513"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"B. Bianco","raw_affiliation_strings":["Centre of Microcytemia of Rome, Institute of Hygiene, University of Rome, Rome"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre of Microcytemia of Rome, Institute of Hygiene, University of Rome, Rome","institution_ids":["https://openalex.org/I861853513"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5088644603","display_name":"Bruno Graziani","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I861853513","display_name":"Sapienza University of Rome","ror":"https://ror.org/02be6w209","country_code":"IT","type":"education","lineage":["https://openalex.org/I861853513"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"B. Graziani","raw_affiliation_strings":["Centre of Microcytemia of Rome, Institute of Hygiene, University of Rome, Rome"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre of Microcytemia of Rome, Institute of Hygiene, University of Rome, Rome","institution_ids":["https://openalex.org/I861853513"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5006990819","display_name":"I. Mastromonaco","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I861853513","display_name":"Sapienza University of Rome","ror":"https://ror.org/02be6w209","country_code":"IT","type":"education","lineage":["https://openalex.org/I861853513"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"I. Mastromonaco","raw_affiliation_strings":["Centre of Microcytemia of Rome, Institute of Hygiene, University of Rome, Rome"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre of Microcytemia of Rome, Institute of Hygiene, University of Rome, Rome","institution_ids":["https://openalex.org/I861853513"]}]},{"author_position":"middle","author":{"id":null,"display_name":"P. Salvini","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I861853513","display_name":"Sapienza University of Rome","ror":"https://ror.org/02be6w209","country_code":"IT","type":"education","lineage":["https://openalex.org/I861853513"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"P. Salvini","raw_affiliation_strings":["Centre of Microcytemia of Rome, Institute of Hygiene, University of Rome, Rome"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre of Microcytemia of Rome, Institute of Hygiene, University of Rome, Rome","institution_ids":["https://openalex.org/I861853513"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5001188814","display_name":"Ezio Silvestroni","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"E. Silvestroni","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.2605,"has_fulltext":false,"cited_by_count":7,"citation_normalized_percentile":{"value":0.4954583,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":92},"biblio":{"volume":"23","issue":"5","first_page":"454","last_page":"466"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10554","display_name":"Hemoglobinopathies and Related Disorders","score":0.9984999895095825,"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":0.9984999895095825,"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/T10452","display_name":"Iron Metabolism and Disorders","score":0.0003000000142492354,"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"}},{"id":"https://openalex.org/T12094","display_name":"Hemoglobin structure and function","score":9.999999747378752e-05,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/double-heterozygosity","display_name":"double heterozygosity","score":0.8679999709129333},{"id":"https://openalex.org/keywords/hemoglobin-a2","display_name":"hemoglobin A2","score":0.8830000162124634},{"id":"https://openalex.org/keywords/fetal-hemoglobin","display_name":"fetal hemoglobin","score":0.968999981880188},{"id":"https://openalex.org/keywords/hemoglobinopathies","display_name":"hemoglobinopathies","score":0.6460000276565552},{"id":"https://openalex.org/keywords/hemoglobin-genes","display_name":"hemoglobin genes","score":0.33399999141693115}],"concepts":[{"id":"https://openalex.org/C143589142","wikidata":"https://www.wikidata.org/wiki/Q2617554","display_name":"Loss of heterozygosity","level":4,"score":0.8424813747406006},{"id":"https://openalex.org/C153471976","wikidata":"https://www.wikidata.org/wiki/Q2873354","display_name":"Heterozygote advantage","level":4,"score":0.6262362003326416},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6250079274177551},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.5387076139450073},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5244974493980408},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5215375423431396},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.20393502712249756}],"mesh":[{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000510","descriptor_name":"Alpha-Globulins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001609","descriptor_name":"Beta-Globulins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002869","descriptor_name":"Chromosome Aberrations","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005787","descriptor_name":"Gene Frequency","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006455","descriptor_name":"Hemoglobins, Abnormal","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009996","descriptor_name":"Osmotic Fragility","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","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":2,"locations":[{"id":"doi:10.1159/000152610","doi":"https://doi.org/10.1159/000152610","is_oa":false,"landing_page_url":"https://doi.org/10.1159/000152610","pdf_url":null,"source":{"id":"https://openalex.org/S97696616","display_name":"Human Heredity","issn_l":"0001-5652","issn":["0001-5652","1423-0062"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-4"],"host_organization":"https://openalex.org/P4310317820","host_organization_name":"Karger Publishers","host_organization_lineage":["https://openalex.org/P4310317820"],"host_organization_lineage_names":["Karger Publishers"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Heredity","raw_type":"journal-article"},{"id":"pmid:4132092","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/4132092","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":"Human heredity","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.8199999928474426,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320307856","display_name":"World Health Organization","ror":"https://ror.org/01f80g185"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2396129443","https://openalex.org/W2417816455","https://openalex.org/W2122199937","https://openalex.org/W2048795245","https://openalex.org/W2053779795","https://openalex.org/W7057003163","https://openalex.org/W2001110938","https://openalex.org/W1985134280","https://openalex.org/W1954532120","https://openalex.org/W4289283442"],"abstract_inverted_index":{"Twelve":[0],"families":[1],"with":[2,91,127],"sure":[3],"or":[4],"probable":[5],"heterozygotes":[6],"for":[7,86],"\u03b1-":[8,87,132],"and":[9,66,88,111,119,133,142],"\u03b2-microcytemias":[10],"are":[11,140],"described.":[12],"A":[13],"constant":[14],"finding":[15],"in":[16,36,68,76,136],"all":[17],"these":[18],"subjects":[19,52,61],"is":[20,43],"a":[21,29,55],"high":[22],"percentage":[23],"of":[24,32,45,79,96,98,105,108,112,114,123,131],"Hb":[25,33],"A2":[26],"accompanied":[27],"by":[28,64],"normal":[30,56],"amount":[31],"F,":[34],"as":[35,59,83],"the":[37,60,77,80,99,106,109,115,120,124,128],"usual":[38],"\u03b2-microcytemics.":[39],"The":[40,103],"hematological":[41,57],"picture":[42],"that":[44],"microcytemia.":[46],"There":[47],"are,":[48],"however,":[49],"three":[50],"exceptional":[51],"who":[53],"show":[54],"picture,":[58],"previously":[62],"described":[63],"Silvestroni":[65],"Bianco":[67],"1957.":[69],"These":[70],"previous":[71],"observations":[72],"could":[73],"be":[74],"interpreted,":[75],"light":[78],"present":[81],"findings,":[82],"double":[84],"heterozygosity":[85],"\u03b2-microcytemia":[89],"genes":[90,118],"approximately":[92],"equally":[93],"depressed":[94],"rates":[95,130],"synthesis":[97],"respective":[100],"polypeptide":[101],"chains.":[102],"phenotypes":[104],"carriers":[107],"\u03b2-":[110],"one":[113],"two":[116],"\u03b1-microcytemic":[117],"diagnostic":[121],"importance":[122],"studies":[125],"dealing":[126],"relative":[129],"\u03b2-chain":[134],"biosynthesis":[135],"various":[137],"relevant":[138],"conditions":[139],"illustrated":[141],"discussed.":[143]},"counts_by_year":[{"year":2021,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
