{"id":"https://openalex.org/W2005507988","doi":"https://doi.org/10.3109/03630269.2013.863206","title":"Severe \u03b1-Thalassemia Intermedia Due to a Compound Heterozygosity for the Highly Unstable Hb Adana (HBA2: c.179G>A) and a Novel Codon 24 (HBA2: c.75T>A) Mutation","display_name":"Severe \u03b1-Thalassemia Intermedia Due to a Compound Heterozygosity for the Highly Unstable Hb Adana (HBA2: c.179G>A) and a Novel Codon 24 (HBA2: c.75T>A) Mutation","publication_year":2013,"publication_date":"2013-12-18","ids":{"openalex":"https://openalex.org/W2005507988","doi":"https://doi.org/10.3109/03630269.2013.863206","mag":"2005507988","pmid":"https://pubmed.ncbi.nlm.nih.gov/24351118","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/3971804"},"language":"en","primary_location":{"id":"doi:10.3109/03630269.2013.863206","doi":"https://doi.org/10.3109/03630269.2013.863206","is_oa":false,"landing_page_url":"https://doi.org/10.3109/03630269.2013.863206","pdf_url":null,"source":{"id":"https://openalex.org/S81929299","display_name":"Hemoglobin","issn_l":"0363-0269","issn":["0363-0269","1532-432X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","jufo-1","medline","norway-1","poland-40","russia-white-list-3"],"host_organization":"https://openalex.org/P4310320547","host_organization_name":"Taylor & Francis","host_organization_lineage":["https://openalex.org/P4310320547","https://openalex.org/P4310320449"],"host_organization_lineage_names":["Taylor & Francis","Informa"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Hemoglobin","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3971804","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5016838646","display_name":"Dewi Megawati","orcid":"https://orcid.org/0000-0001-9230-2265","observed_orcids":["https://orcid.org/0000-0001-9230-2265"]},"institutions":[{"id":"https://openalex.org/I2800477803","display_name":"Eijkman Institute for Molecular Biology","ror":"https://ror.org/0308s4091","country_code":"ID","type":"nonprofit","lineage":["https://openalex.org/I2800477803","https://openalex.org/I4387154144"]}],"countries":["ID"],"is_corresponding":false,"raw_author_name":"Dewi Megawati","raw_affiliation_strings":["The Eijkman Institute for Molecular Biology Jakarta Indonesia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Eijkman Institute for Molecular Biology Jakarta Indonesia","institution_ids":["https://openalex.org/I2800477803"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5071247666","display_name":"Ita Margaretha Nainggolan","orcid":"https://orcid.org/0000-0002-9148-4359","observed_orcids":["https://orcid.org/0000-0002-9148-4359"]},"institutions":[{"id":"https://openalex.org/I2800477803","display_name":"Eijkman Institute for Molecular Biology","ror":"https://ror.org/0308s4091","country_code":"ID","type":"nonprofit","lineage":["https://openalex.org/I2800477803","https://openalex.org/I4387154144"]},{"id":"https://openalex.org/I29617571","display_name":"University of Indonesia","ror":"https://ror.org/0116zj450","country_code":"ID","type":"education","lineage":["https://openalex.org/I29617571"]}],"countries":["ID"],"is_corresponding":false,"raw_author_name":"Ita M. Nainggolan","raw_affiliation_strings":["The Eijkman Institute for Molecular Biology JakartaIndonesia; Biomedical Sciences Faculty of Medicine, Universitas Indonesia JakartaIndonesia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Eijkman Institute for Molecular Biology JakartaIndonesia; Biomedical Sciences Faculty of Medicine, Universitas Indonesia JakartaIndonesia","institution_ids":["https://openalex.org/I2800477803","https://openalex.org/I29617571"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051389774","display_name":"Maria Swastika","orcid":"https://orcid.org/0000-0001-8811-0498","observed_orcids":["https://orcid.org/0000-0001-8811-0498"]},"institutions":[{"id":"https://openalex.org/I2800477803","display_name":"Eijkman Institute for Molecular Biology","ror":"https://ror.org/0308s4091","country_code":"ID","type":"nonprofit","lineage":["https://openalex.org/I2800477803","https://openalex.org/I4387154144"]}],"countries":["ID"],"is_corresponding":false,"raw_author_name":"Maria Swastika","raw_affiliation_strings":["The Eijkman Institute for Molecular Biology JakartaIndonesia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Eijkman Institute for Molecular Biology JakartaIndonesia","institution_ids":["https://openalex.org/I2800477803"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5026935877","display_name":"Susi Susanah","orcid":"https://orcid.org/0000-0003-4052-512X","observed_orcids":["https://orcid.org/0000-0003-4052-512X"]},"institutions":[{"id":"https://openalex.org/I4210086620","display_name":"Dr. Hasan Sadikin General Hospital","ror":"https://ror.org/003392690","country_code":"ID","type":"healthcare","lineage":["https://openalex.org/I4210086620"]},{"id":"https://openalex.org/I91819753","display_name":"Padjadjaran University","ror":"https://ror.org/00xqf8t64","country_code":"ID","type":"education","lineage":["https://openalex.org/I91819753"]}],"countries":["ID"],"is_corresponding":false,"raw_author_name":"Susi Susanah","raw_affiliation_strings":["Department of Pediatric Hematogy-Oncology, Hasan Sadikin General Hospital/Faculty of Medicine Padjajaran University BandungIndonesia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Hematogy-Oncology, Hasan Sadikin General Hospital/Faculty of Medicine Padjajaran University BandungIndonesia","institution_ids":["https://openalex.org/I4210086620","https://openalex.org/I91819753"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109313314","display_name":"Johanes Cornellius Mose","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210086620","display_name":"Dr. Hasan Sadikin General Hospital","ror":"https://ror.org/003392690","country_code":"ID","type":"healthcare","lineage":["https://openalex.org/I4210086620"]},{"id":"https://openalex.org/I91819753","display_name":"Padjadjaran University","ror":"https://ror.org/00xqf8t64","country_code":"ID","type":"education","lineage":["https://openalex.org/I91819753"]}],"countries":["ID"],"is_corresponding":false,"raw_author_name":"Johanes C. Mose","raw_affiliation_strings":["Department of Obstetric- Gynecology, Hasan Sadikin General Hospital/Faculty of Medicine Padjajaran University BandungIndonesia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Obstetric- Gynecology, Hasan Sadikin General Hospital/Faculty of Medicine Padjajaran University BandungIndonesia","institution_ids":["https://openalex.org/I4210086620","https://openalex.org/I91819753"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5035243054","display_name":"Alida Roswita Harahap","orcid":"https://orcid.org/0000-0002-1994-7662","observed_orcids":["https://orcid.org/0000-0002-1994-7662"]},"institutions":[{"id":"https://openalex.org/I2800477803","display_name":"Eijkman Institute for Molecular Biology","ror":"https://ror.org/0308s4091","country_code":"ID","type":"nonprofit","lineage":["https://openalex.org/I2800477803","https://openalex.org/I4387154144"]},{"id":"https://openalex.org/I29617571","display_name":"University of Indonesia","ror":"https://ror.org/0116zj450","country_code":"ID","type":"education","lineage":["https://openalex.org/I29617571"]}],"countries":["ID"],"is_corresponding":false,"raw_author_name":"Alida R. Harahap","raw_affiliation_strings":["The Eijkman Institute for Molecular Biology JakartaIndonesia; Department of Clinical Pathology, Faculty of Medicine, Universitas Indonesia JakartaIndonesia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Eijkman Institute for Molecular Biology JakartaIndonesia; Department of Clinical Pathology, Faculty of Medicine, Universitas Indonesia JakartaIndonesia","institution_ids":["https://openalex.org/I2800477803","https://openalex.org/I29617571"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5085155602","display_name":"Iswari Setianingsih","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800477803","display_name":"Eijkman Institute for Molecular Biology","ror":"https://ror.org/0308s4091","country_code":"ID","type":"nonprofit","lineage":["https://openalex.org/I2800477803","https://openalex.org/I4387154144"]}],"countries":["ID"],"is_corresponding":true,"raw_author_name":"Iswari Setianingsih","raw_affiliation_strings":["The Eijkman Institute for Molecular Biology JakartaIndonesia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Eijkman Institute for Molecular Biology JakartaIndonesia","institution_ids":["https://openalex.org/I2800477803"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5085155602"],"corresponding_institution_ids":["https://openalex.org/I2800477803"],"apc_list":null,"apc_paid":null,"fwci":0.473,"has_fulltext":false,"cited_by_count":8,"citation_normalized_percentile":{"value":0.63741815,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":96},"biblio":{"volume":"38","issue":"2","first_page":"149","last_page":"151"},"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/T11660","display_name":"Blood groups and transfusion","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/compound-heterozygosity","display_name":"compound heterozygosity","score":0.8690000176429749},{"id":"https://openalex.org/keywords/prenatal-diagnosis","display_name":"prenatal diagnosis","score":0.621999979019165},{"id":"https://openalex.org/keywords/hemoglobin-stability","display_name":"hemoglobin stability","score":0.45100000500679016}],"concepts":[{"id":"https://openalex.org/C2781058662","wikidata":"https://www.wikidata.org/wiki/Q1358504","display_name":"Mean corpuscular volume","level":3,"score":0.8393920063972473},{"id":"https://openalex.org/C12125453","wikidata":"https://www.wikidata.org/wiki/Q5156837","display_name":"Compound heterozygosity","level":4,"score":0.717065691947937},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6055885553359985},{"id":"https://openalex.org/C2777216359","wikidata":"https://www.wikidata.org/wiki/Q426738","display_name":"Hemoglobin A2","level":3,"score":0.5736525058746338},{"id":"https://openalex.org/C176944494","wikidata":"https://www.wikidata.org/wiki/Q1415380","display_name":"Point mutation","level":4,"score":0.5692664980888367},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5595666766166687},{"id":"https://openalex.org/C2777799968","wikidata":"https://www.wikidata.org/wiki/Q185137","display_name":"Thalassemia","level":2,"score":0.5591400861740112},{"id":"https://openalex.org/C143589142","wikidata":"https://www.wikidata.org/wiki/Q2617554","display_name":"Loss of heterozygosity","level":4,"score":0.4542232155799866},{"id":"https://openalex.org/C501378246","wikidata":"https://www.wikidata.org/wiki/Q358151","display_name":"Intermedia","level":3,"score":0.43333643674850464},{"id":"https://openalex.org/C2780554921","wikidata":"https://www.wikidata.org/wiki/Q1940759","display_name":"Mean corpuscular hemoglobin","level":4,"score":0.4244357645511627},{"id":"https://openalex.org/C2778917026","wikidata":"https://www.wikidata.org/wiki/Q43041","display_name":"Hemoglobin","level":2,"score":0.40753695368766785},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4075304865837097},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3912492096424103},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.381930947303772},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.08912956714630127},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.08308824896812439},{"id":"https://openalex.org/C142362112","wikidata":"https://www.wikidata.org/wiki/Q735","display_name":"Art","level":0,"score":0.0},{"id":"https://openalex.org/C554144382","wikidata":"https://www.wikidata.org/wiki/Q213156","display_name":"Performance art","level":2,"score":0.0},{"id":"https://openalex.org/C52119013","wikidata":"https://www.wikidata.org/wiki/Q50637","display_name":"Art history","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003062","descriptor_name":"Codon","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005192","descriptor_name":"Family Health","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005315","descriptor_name":"Fetal Diseases","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D005315","descriptor_name":"Fetal Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006443","descriptor_name":"Hemoglobin A2","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006455","descriptor_name":"Hemoglobins, Abnormal","qualifier_ui":"Q000235","qualifier_name":"genetics","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":"D007214","descriptor_name":"Indonesia","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":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011247","descriptor_name":"Pregnancy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011296","descriptor_name":"Prenatal Diagnosis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017085","descriptor_name":"alpha-Thalassemia","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D017085","descriptor_name":"alpha-Thalassemia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D017086","descriptor_name":"beta-Thalassemia","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D017086","descriptor_name":"beta-Thalassemia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D017354","descriptor_name":"Point Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":5,"locations":[{"id":"doi:10.3109/03630269.2013.863206","doi":"https://doi.org/10.3109/03630269.2013.863206","is_oa":false,"landing_page_url":"https://doi.org/10.3109/03630269.2013.863206","pdf_url":null,"source":{"id":"https://openalex.org/S81929299","display_name":"Hemoglobin","issn_l":"0363-0269","issn":["0363-0269","1532-432X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","jufo-1","medline","norway-1","poland-40","russia-white-list-3"],"host_organization":"https://openalex.org/P4310320547","host_organization_name":"Taylor & Francis","host_organization_lineage":["https://openalex.org/P4310320547","https://openalex.org/P4310320449"],"host_organization_lineage_names":["Taylor & Francis","Informa"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Hemoglobin","raw_type":"journal-article"},{"id":"pmh:oai:europepmc.org:2959598","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3971804","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:3971804","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3971804","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Hemoglobin","raw_type":"Text"},{"id":"pmid:24351118","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/24351118","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":"Hemoglobin","raw_type":"Case Reports"},{"id":"pmh:oai:CiteSeerX.psu:10.1.1.795.9780","doi":null,"is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.795.9780","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/b4/1a/HEM-38-149.PMC3971804.pdf","raw_type":"text"}],"best_oa_location":{"id":"pmh:oai:europepmc.org:2959598","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3971804","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9391000270843506,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":18,"referenced_works":["https://openalex.org/W16313930","https://openalex.org/W97011215","https://openalex.org/W1988705922","https://openalex.org/W1989081581","https://openalex.org/W1995317558","https://openalex.org/W2009656425","https://openalex.org/W2033922923","https://openalex.org/W2036587167","https://openalex.org/W2047241658","https://openalex.org/W2051524933","https://openalex.org/W2054385358","https://openalex.org/W2063715154","https://openalex.org/W2083048402","https://openalex.org/W2093763477","https://openalex.org/W2137149509","https://openalex.org/W2140556388","https://openalex.org/W4211199099","https://openalex.org/W4302354217"],"related_works":["https://openalex.org/W7099690865","https://openalex.org/W3033347057","https://openalex.org/W1988849362","https://openalex.org/W1995317558","https://openalex.org/W2414329407","https://openalex.org/W4312420641","https://openalex.org/W2160727382","https://openalex.org/W2778183798","https://openalex.org/W7098250663","https://openalex.org/W2137149509"],"abstract_inverted_index":{"We":[0],"report":[1],"a":[2,18,33,49,79,92],"novel":[3,22,54,83],"mutation":[4,23,55,85],"at":[5,56,69],"codon":[6,57,70],"24":[7,58],"of":[8,72,81],"the":[9,53,60,73,82],"\u03b12-globin":[10,74],"gene":[11],"(HBA2:":[12,65],"c.75T":[13],">":[14,67],"A)":[15,68],"found":[16,46],"in":[17],"Sundanese":[19],"family.":[20],"This":[21],"was":[24,45,78],"detected":[25],"during":[26],"prenatal":[27],"diagnosis.":[28],"The":[29,76],"couple":[30],"already":[31],"had":[32],"7-year-old":[34],"boy":[35],"who":[36],"exhibited":[37],"clinically":[38],"severe":[39],"\u03b1-thalassemia":[40],"intermedia":[41],"(\u03b1-TI),":[42],"and":[43,59,86,91,98],"he":[44],"to":[47],"be":[48],"compound":[50],"heterozygote":[51],"for":[52],"previously":[61],"described":[62],"Hb":[63,101],"Adana":[64],"c.179G":[66],"59":[71],"gene.":[75],"father":[77],"carrier":[80],"point":[84],"showed":[87],"normal":[88],"hemoglobin":[89],"(Hb)":[90],"low":[93],"mean":[94,99],"corpuscular":[95,100],"volume":[96],"(MCV)":[97],"(MCH)":[102],"value.":[103]},"counts_by_year":[{"year":2022,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2014,"cited_by_count":1},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}