{"id":"https://openalex.org/W2287513397","doi":null,"title":"Haemolysis in sickle cell anaemia: a genotype/phenotype association study","display_name":"Haemolysis in sickle cell anaemia: a genotype/phenotype association study","publication_year":2014,"publication_date":"2014-11-01","ids":{"openalex":"https://openalex.org/W2287513397","mag":"2287513397"},"language":"en","primary_location":{"id":"pmh:oai:repositorio.insa.pt:10400.18/2510","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/10400.18/2510","pdf_url":"http://hdl.handle.net/10400.18/2510","source":{"id":"https://openalex.org/S4306402433","display_name":"Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"conference object"},"volume":null,"type":"conference-paper","is_traditional":true,"indexed_in":[],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"http://hdl.handle.net/10400.18/2510","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":null,"display_name":"Andreia Coelho","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Andreia Coelho","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101969832","display_name":"Alexandra Dias","orcid":"https://orcid.org/0000-0001-8175-6341","observed_orcids":["https://orcid.org/0000-0001-8175-6341"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Alexandra Dias","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0001-8175-6341","affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103377734","display_name":"Anabela Morais","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Anabela Morais","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103098592","display_name":"Baltazar Nunes","orcid":"https://orcid.org/0000-0001-6230-7209","observed_orcids":["https://orcid.org/0000-0001-6230-7209"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Baltazar Nunes","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064281791","display_name":"Emanuel Ferreira","orcid":"https://orcid.org/0000-0003-1320-2894","observed_orcids":["https://orcid.org/0000-0003-1320-2894"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Emanuel Ferreira","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0003-1320-2894","affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005367322","display_name":"Isabel Pican\u00e7o","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Isabel Pican\u00e7o","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077479770","display_name":"Paula Faustino","orcid":"https://orcid.org/0000-0002-6269-4867","observed_orcids":["https://orcid.org/0000-0002-6269-4867"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Paula Faustino","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0002-6269-4867","affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5061262571","display_name":"Jo\u00e3o Lavinha","orcid":"https://orcid.org/0000-0002-7474-6871","observed_orcids":["https://orcid.org/0000-0002-7474-6871"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Jo\u00e3o Lavinha","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0002-7474-6871","affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"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/T10261","display_name":"Genetic Associations and Epidemiology","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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/sickle-cell-disease","display_name":"sickle cell disease","score":0.9990000128746033},{"id":"https://openalex.org/keywords/chronic-hemolysis","display_name":"chronic hemolysis","score":0.9869999885559082},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.9599999785423279},{"id":"https://openalex.org/keywords/modifier-genes","display_name":"genetic modifiers","score":0.9269999861717224},{"id":"https://openalex.org/keywords/vcam-1","display_name":"VCAM-1","score":0.7680000066757202},{"id":"https://openalex.org/keywords/nos3","display_name":"NOS3","score":0.9490000009536743},{"id":"https://openalex.org/keywords/cd36","display_name":"CD36","score":0.9850000143051147},{"id":"https://openalex.org/keywords/reticulocyte-count","display_name":"reticulocyte count","score":0.7179999947547913},{"id":"https://openalex.org/keywords/lactate-dehydrogenase","display_name":"lactate dehydrogenase","score":0.9539999961853027},{"id":"https://openalex.org/keywords/total-bilirubin","display_name":"total bilirubin","score":0.953000009059906},{"id":"https://openalex.org/keywords/haplotypes","display_name":"haplotypes","score":0.7360000014305115},{"id":"https://openalex.org/keywords/pediatric-patients","display_name":"pediatric patients","score":0.777999997138977},{"id":"https://openalex.org/keywords/nitric-oxide-production","display_name":"nitric oxide production","score":0.8939999938011169},{"id":"https://openalex.org/keywords/red-blood-cell-volume","display_name":"erythrocyte volume","score":0.9800000190734863}],"concepts":[{"id":"https://openalex.org/C2910801743","wikidata":"https://www.wikidata.org/wiki/Q471706","display_name":"Haemolysis","level":2,"score":0.8359968662261963},{"id":"https://openalex.org/C2776317666","wikidata":"https://www.wikidata.org/wiki/Q2496436","display_name":"Fetal hemoglobin","level":4,"score":0.6754042506217957},{"id":"https://openalex.org/C2778620579","wikidata":"https://www.wikidata.org/wiki/Q185034","display_name":"Sickle cell anemia","level":3,"score":0.6138592958450317},{"id":"https://openalex.org/C2777208419","wikidata":"https://www.wikidata.org/wiki/Q4347672","display_name":"Red Cell","level":2,"score":0.5261440277099609},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.5004265308380127},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.46012306213378906},{"id":"https://openalex.org/C2776557347","wikidata":"https://www.wikidata.org/wiki/Q37187","display_name":"Red blood cell","level":2,"score":0.4368247389793396},{"id":"https://openalex.org/C2776175824","wikidata":"https://www.wikidata.org/wiki/Q1145668","display_name":"Hemolytic anemia","level":2,"score":0.4136591851711273},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.40657249093055725},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3925805985927582},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3887709975242615},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2866446375846863},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.245839923620224},{"id":"https://openalex.org/C1491633281","wikidata":"https://www.wikidata.org/wiki/Q7868","display_name":"Cell","level":2,"score":0.19960173964500427},{"id":"https://openalex.org/C172680121","wikidata":"https://www.wikidata.org/wiki/Q26513","display_name":"Fetus","level":3,"score":0.15849381685256958},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.09457781910896301}],"mesh":[],"locations_count":2,"locations":[{"id":"pmh:oai:repositorio.insa.pt:10400.18/2510","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/10400.18/2510","pdf_url":"http://hdl.handle.net/10400.18/2510","source":{"id":"https://openalex.org/S4306402433","display_name":"Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"conference object"},{"id":"mag:2287513397","doi":null,"is_oa":false,"landing_page_url":"https://repositorio.insa.pt/bitstream/10400.18/1284/1/poster%20SPP%20Haemolysis_Poster_SPP_2013%20-%20Final_20121003.pdf","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null}],"best_oa_location":{"id":"pmh:oai:repositorio.insa.pt:10400.18/2510","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/10400.18/2510","pdf_url":"http://hdl.handle.net/10400.18/2510","source":{"id":"https://openalex.org/S4306402433","display_name":"Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"conference object"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":1.0}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2287513397.pdf","grobid_xml":"https://content.openalex.org/works/W2287513397.grobid-xml"},"referenced_works_count":1,"referenced_works":["https://openalex.org/W1999608172"],"related_works":["https://openalex.org/W2165777816","https://openalex.org/W4291492960","https://openalex.org/W2412754845","https://openalex.org/W4295422373","https://openalex.org/W1972964884","https://openalex.org/W2572873940","https://openalex.org/W2754533531","https://openalex.org/W4387747665","https://openalex.org/W7060919976","https://openalex.org/W2484032347"],"abstract_inverted_index":{"Introduction:":[0],"Sickle":[1],"cell":[2,308],"anaemia":[3,12],"(SCA)":[4],"is":[5],"a":[6,50,57,129,199,235,261,292],"clinically":[7],"heterogeneous":[8],"autosomal":[9],"recessive":[10],"monogenic":[11],"characterised":[13],"by":[14,167,191],"chronic":[15,45],"haemolysis":[16,46,103,299],"and":[17,23,27,38,56,73,86,94,108,111,253,259,312,315],"recurrent":[18],"episodes":[19],"of":[20,40,44,53,61,83,114,124,133,142,159,202,306],"severe":[21],"vaso-occlusion":[22],"infection.":[24],"Several":[25],"environmental":[26],"genetic":[28,81,116,294],"determinants":[29],"have":[30],"been":[31,48],"suggested":[32],"to":[33,78,182],"modulate":[34],"the":[35,90,98,112,183,210,242,268,287,297],"onset,":[36],"course":[37],"outcome":[39],"SCA.":[41],"The":[42],"level":[43,225],"has":[47],"considered":[49],"critical":[51],"measure":[52],"SCA":[54,137,298],"severity":[55],"possible":[58],"proximate":[59],"cause":[60],"some":[62],"disease":[63],"complications":[64],"such":[65],"as":[66],"stroke,":[67],"pulmonary":[68],"hypertension,":[69],"priapism,":[70],"leg":[71],"ulceration":[72],"cholelithiasis.":[74],"Thus,":[75],"we":[76],"proposed":[77],"search":[79],"for":[80,180,217,296],"modifiers":[82],"this":[84],"sub-phenotype":[85],"gain":[87],"insights":[88],"into":[89],"underlying":[91],"mechanisms.":[92],"Patients":[93],"Methods:":[95],"We":[96],"studied":[97],"association":[99,206],"between":[100],"commonly":[101],"measured":[102],"biomarkers":[104],"(LDH,":[105],"total":[106,237],"bilirubin":[107,238],"reticulocyte":[109,263],"count)":[110],"inheritance":[113],"41":[115],"variants":[117],"(34":[118],"SNP,":[119],"6":[120],"indel,":[121],"1":[122],"STR)":[123],"10":[125],"candidate":[126],"genes":[127],"in":[128,147,151,198],"longitudinally":[130],"observed":[131,208],"series":[132],"99":[134],"paediatric":[135],"homozygous":[136],"patients":[138],"(median":[139,155],"current":[140],"age":[141],"9.9":[143],"yr)":[144],"followed":[145],"up":[146],"two":[148],"general":[149],"hospitals":[150],"Greater":[152],"Lisboa":[153],"area":[154],"follow-up":[156],"per":[157],"patient":[158],"5.0":[160],"yr).":[161],"Candidate":[162],"gene":[163],"genotyping":[164],"was":[165,207,226,239,265,277],"performed":[166],"PCR-RFLP,":[168],"Sanger":[169],"sequencing,":[170],"Gene":[171],"Scan":[172],"or":[173],"Gap-PCR.":[174],"All":[175],"genotype":[176],"distributions":[177],"were":[178,189,213],"tested":[179],"adherence":[181],"Hardy-Weinberg":[184],"equilibrium.":[185],"When":[186],"appropriate,":[187],"haplotypes":[188],"inferred":[190],"software":[192],"PHASE,":[193],"version":[194],"2.1.1":[195],"Results:":[196],"Although":[197],"large":[200],"number":[201],"tests":[203],"seemingly":[204],"significant":[205],"only":[209],"following":[211],"ones":[212],"confirmed":[214],"upon":[215],"correction":[216],"multiple":[218,302],"comparisons:":[219],"i)":[220],"an":[221,274],"increased":[222,275],"serum":[223],"LDH":[224],"associated":[227,240,266,278],"with":[228,241,267,279],"haplotype":[229,254],"7":[230],"within":[231,256],"VCAM1":[232,257],"gene;":[233],"ii)":[234],"lower":[236],"3.7-kb":[243,269],"deletion":[244,270],"at":[245,250,271,282],"HBA":[246],"gene,":[247,252],"rs2070744_T":[248],"allele":[249,281],"NOS3":[251],"9":[255],"promoter;":[258],"iii)":[260],"diminished":[262],"count":[264,276],"HBA,":[272],"whereas":[273],"rs1984112_G":[280],"CD36":[283],"gene.":[284],"Conclusion:":[285],"On":[286],"whole,":[288],"our":[289],"findings":[290],"suggest":[291],"complex":[293],"architecture":[295],"process":[300],"involving":[301],"pathways,":[303],"namely":[304],"control":[305],"vascular":[307],"adhesion,":[309],"NO":[310],"synthesis":[311],"erythrocyte":[313],"volume":[314],"haemoglobinisation.":[316]},"counts_by_year":[],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
