{"id":"https://openalex.org/W2336754635","doi":"https://doi.org/10.1056/nejm198612183152504","title":"Inheritance Pattern and Clinical Response to Splenectomy as a Reflection of Erythrocyte Spectrin Deficiency in Hereditary Spherocytosis","display_name":"Inheritance Pattern and Clinical Response to Splenectomy as a Reflection of Erythrocyte Spectrin Deficiency in Hereditary Spherocytosis","publication_year":1986,"publication_date":"1986-12-18","ids":{"openalex":"https://openalex.org/W2336754635","doi":"https://doi.org/10.1056/nejm198612183152504","mag":"2336754635","pmid":"https://pubmed.ncbi.nlm.nih.gov/3785322"},"language":"en","primary_location":{"id":"doi:10.1056/nejm198612183152504","doi":"https://doi.org/10.1056/nejm198612183152504","is_oa":false,"landing_page_url":"https://doi.org/10.1056/nejm198612183152504","pdf_url":null,"source":{"id":"https://openalex.org/S62468778","display_name":"New England Journal of Medicine","issn_l":"0028-4793","issn":["0028-4793","0096-6762","1533-4406","2331-4710"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","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/P4310320239","host_organization_name":"Massachusetts Medical Society","host_organization_lineage":["https://openalex.org/P4310320239"],"host_organization_lineage_names":["Massachusetts Medical Society"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"New England Journal of Medicine","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5017989879","display_name":"Peter C. Agre","orcid":"https://orcid.org/0000-0002-9581-890X","observed_orcids":["https://orcid.org/0000-0002-9581-890X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Peter Agre","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016618062","display_name":"Andrew W. Asimos","orcid":"https://orcid.org/0000-0002-6697-3724","observed_orcids":["https://orcid.org/0000-0002-6697-3724"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Andrew Asimos","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020958437","display_name":"James F. Casella","orcid":"https://orcid.org/0000-0002-2846-9420","observed_orcids":["https://orcid.org/0000-0002-2846-9420"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"James F. Casella","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5029290232","display_name":"Campbell W. McMillan","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Campbell McMillan","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":4.6761,"has_fulltext":false,"cited_by_count":143,"citation_normalized_percentile":{"value":0.95185016,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":98},"biblio":{"volume":"315","issue":"25","first_page":"1579","last_page":"1583"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12286","display_name":"Erythrocyte Function and Pathophysiology","score":0.9970999956130981,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"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/T12286","display_name":"Erythrocyte Function and Pathophysiology","score":0.9970999956130981,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"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/T10554","display_name":"Hemoglobinopathies and Related Disorders","score":0.0024999999441206455,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics"},"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/T11721","display_name":"Blood properties and coagulation","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/2740","display_name":"Pulmonary and Respiratory Medicine"},"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/hereditary-spherocytosis","display_name":"hereditary spherocytosis","score":1.0},{"id":"https://openalex.org/keywords/mode-of-inheritance","display_name":"mode of inheritance","score":0.7799999713897705},{"id":"https://openalex.org/keywords/osmotic-fragility","display_name":"osmotic fragility","score":0.7839999794960022},{"id":"https://openalex.org/keywords/anemia-severity","display_name":"anemia severity","score":0.777999997138977},{"id":"https://openalex.org/keywords/homozygotes","display_name":"homozygotes","score":0.6320000290870667}],"concepts":[{"id":"https://openalex.org/C2776952295","wikidata":"https://www.wikidata.org/wiki/Q541244","display_name":"Hereditary spherocytosis","level":2,"score":0.9767214059829712},{"id":"https://openalex.org/C50244902","wikidata":"https://www.wikidata.org/wiki/Q420870","display_name":"Spectrin","level":4,"score":0.9217329621315002},{"id":"https://openalex.org/C2779245863","wikidata":"https://www.wikidata.org/wiki/Q11181178","display_name":"Spherocytosis","level":4,"score":0.8434776663780212},{"id":"https://openalex.org/C2776309230","wikidata":"https://www.wikidata.org/wiki/Q580383","display_name":"Splenectomy","level":3,"score":0.7777314186096191},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7460334300994873},{"id":"https://openalex.org/C2779902561","wikidata":"https://www.wikidata.org/wiki/Q471706","display_name":"Hemolysis","level":2,"score":0.5862261056900024},{"id":"https://openalex.org/C2776175824","wikidata":"https://www.wikidata.org/wiki/Q1145668","display_name":"Hemolytic anemia","level":2,"score":0.5240424275398254},{"id":"https://openalex.org/C74966100","wikidata":"https://www.wikidata.org/wiki/Q14908148","display_name":"EPB41","level":5,"score":0.5134616494178772},{"id":"https://openalex.org/C2778248108","wikidata":"https://www.wikidata.org/wiki/Q5445","display_name":"Anemia","level":2,"score":0.47569403052330017},{"id":"https://openalex.org/C176685330","wikidata":"https://www.wikidata.org/wiki/Q857638","display_name":"Radioimmunoassay","level":2,"score":0.45432084798812866},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.45297402143478394},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.38099509477615356},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.3702847957611084},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.149987131357193},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.14162909984588623},{"id":"https://openalex.org/C2780931953","wikidata":"https://www.wikidata.org/wiki/Q9371","display_name":"Spleen","level":2,"score":0.06818598508834839},{"id":"https://openalex.org/C1491633281","wikidata":"https://www.wikidata.org/wiki/Q7868","display_name":"Cell","level":2,"score":0.0},{"id":"https://openalex.org/C142669718","wikidata":"https://www.wikidata.org/wiki/Q154626","display_name":"Cytoskeleton","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D000745","descriptor_name":"Anemia, Hemolytic, Congenital","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000745","descriptor_name":"Anemia, Hemolytic, Congenital","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000745","descriptor_name":"Anemia, Hemolytic, Congenital","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004910","descriptor_name":"Erythrocyte Membrane","qualifier_ui":"Q000032","qualifier_name":"analysis","is_major_topic":false},{"descriptor_ui":"D004910","descriptor_name":"Erythrocyte Membrane","qualifier_ui":"Q000032","qualifier_name":"analysis","is_major_topic":false},{"descriptor_ui":"D004910","descriptor_name":"Erythrocyte Membrane","qualifier_ui":"Q000032","qualifier_name":"analysis","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","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":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005799","descriptor_name":"Genes, Dominant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005799","descriptor_name":"Genes, Dominant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005799","descriptor_name":"Genes, Dominant","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":false},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","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":false},{"descriptor_ui":"D006720","descriptor_name":"Homozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006720","descriptor_name":"Homozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006720","descriptor_name":"Homozygote","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":"D006801","descriptor_name":"Humans","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":"D008297","descriptor_name":"Male","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":"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":"D009996","descriptor_name":"Osmotic Fragility","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":"D011863","descriptor_name":"Radioimmunoassay","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011863","descriptor_name":"Radioimmunoassay","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011863","descriptor_name":"Radioimmunoassay","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013049","descriptor_name":"Spectrin","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":false},{"descriptor_ui":"D013049","descriptor_name":"Spectrin","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":false},{"descriptor_ui":"D013049","descriptor_name":"Spectrin","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":false},{"descriptor_ui":"D013103","descriptor_name":"Spherocytosis, Hereditary","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D013103","descriptor_name":"Spherocytosis, Hereditary","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D013103","descriptor_name":"Spherocytosis, Hereditary","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D013103","descriptor_name":"Spherocytosis, Hereditary","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D013103","descriptor_name":"Spherocytosis, Hereditary","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D013103","descriptor_name":"Spherocytosis, Hereditary","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D013103","descriptor_name":"Spherocytosis, Hereditary","qualifier_ui":"Q000628","qualifier_name":"therapy","is_major_topic":false},{"descriptor_ui":"D013103","descriptor_name":"Spherocytosis, Hereditary","qualifier_ui":"Q000628","qualifier_name":"therapy","is_major_topic":false},{"descriptor_ui":"D013103","descriptor_name":"Spherocytosis, Hereditary","qualifier_ui":"Q000628","qualifier_name":"therapy","is_major_topic":false},{"descriptor_ui":"D013156","descriptor_name":"Splenectomy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D013156","descriptor_name":"Splenectomy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D013156","descriptor_name":"Splenectomy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1056/nejm198612183152504","doi":"https://doi.org/10.1056/nejm198612183152504","is_oa":false,"landing_page_url":"https://doi.org/10.1056/nejm198612183152504","pdf_url":null,"source":{"id":"https://openalex.org/S62468778","display_name":"New England Journal of Medicine","issn_l":"0028-4793","issn":["0028-4793","0096-6762","1533-4406","2331-4710"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","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/P4310320239","host_organization_name":"Massachusetts Medical Society","host_organization_lineage":["https://openalex.org/P4310320239"],"host_organization_lineage_names":["Massachusetts Medical Society"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"New England Journal of Medicine","raw_type":"journal-article"},{"id":"pmid:3785322","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/3785322","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":"The New England journal of medicine","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9537000060081482,"id":"https://metadata.un.org/sdg/3"}],"sustainable_development_goals_aurora":[{"display_name":"Good health and well-being","score":0.7300000190734863,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[{"id":"https://openalex.org/G1147350772","display_name":"NHLBI CLINICAL INVESTIGATOR AWARD PROGRAM","funder_award_id":"5k08hl000883-05","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G2528223579","display_name":null,"funder_award_id":"5K08 HL 00883-05","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G3920422176","display_name":"ACTIN CAPPING PROTEINS IN PLATELETS AND MUSCLE","funder_award_id":"5k08hl001341-04","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G6052000317","display_name":null,"funder_award_id":"5K08 HL 01341-02","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G6348416122","display_name":null,"funder_award_id":"R01 HL 33991-01","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G6461395073","display_name":"RED CELL AQUAPORIN-1 WATER TRANSPORT PROTEIN","funder_award_id":"5r01hl033991-18","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"}],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337338","display_name":"National Heart, Lung, and Blood Institute","ror":"https://ror.org/012pb6c26"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":17,"referenced_works":["https://openalex.org/W16753270","https://openalex.org/W161683262","https://openalex.org/W1986783431","https://openalex.org/W1998193053","https://openalex.org/W2005051927","https://openalex.org/W2011196330","https://openalex.org/W2013257106","https://openalex.org/W2048568333","https://openalex.org/W2073879684","https://openalex.org/W2086217328","https://openalex.org/W2089770290","https://openalex.org/W2154544959","https://openalex.org/W2242883109","https://openalex.org/W2243419098","https://openalex.org/W2397149717","https://openalex.org/W2414351942","https://openalex.org/W2419579373"],"related_works":["https://openalex.org/W2060053012","https://openalex.org/W1981073884","https://openalex.org/W2000404117","https://openalex.org/W1998193053","https://openalex.org/W2588033312","https://openalex.org/W2602513632","https://openalex.org/W4319459496","https://openalex.org/W2279292989","https://openalex.org/W2401186049","https://openalex.org/W4390420735"],"abstract_inverted_index":{"To":[0],"determine":[1],"how":[2],"various":[3],"inheritance":[4,182],"patterns":[5],"and":[6,98,130,163,184],"responses":[7],"to":[8,11,49,68,76,123,139,157,186],"splenectomy":[9,187],"relate":[10],"erythrocyte":[12,113,192],"spectrin":[13,21,46,72,94,143,193],"deficiencies":[14,194],"in":[15,27,117,188],"hereditary":[16,39,189],"spherocytosis,":[17],"we":[18],"measured":[19],"the":[20,35,57,61,103,136,181],"content":[22],"of":[23,38,52,60,74,100,155],"erythrocytes":[24],"by":[25,197],"radioimmunoassay":[26],"33":[28],"patients":[29,101,119,141],"with":[30,34,45,56,70,91,102,135,142,153,165],"this":[31],"disease.":[32],"Patients":[33,55],"dominant":[36],"form":[37,59,105],"spherocytosis":[40,190],"generally":[41],"had":[42,63,87,111,160],"mild":[43],"anemia,":[44],"at":[47],"63":[48],"81":[50],"percent":[51,147,159,169],"normal":[53,108,149],"levels.":[54,95],"nondominant":[58,104],"disease":[62],"anemia":[64],"ranging":[65],"from":[66],"severe":[67],"mild,":[69],"corresponding":[71],"levels":[73,116,144,154,166],"30":[75],"74":[77],"percent;":[78],"their":[79],"siblings":[80],"were":[81,106,120,132],"affected":[82],"similarly.":[83],"Distantly":[84],"related":[85,122],"homozygotes":[86],"different":[88,93],"clinical":[89,137],"severities":[90],"correspondingly":[92],"The":[96],"parents":[97],"offspring":[99],"clinically":[107],"but":[109,171],"consistently":[110],"subtle":[112],"abnormalities.":[114],"Spectrin":[115],"all":[118],"inversely":[121],"osmotic":[124],"fragility":[125],"(P":[126,174],"less":[127,175],"than":[128,176],"0.0001),":[129],"they":[131],"also":[133],"correlated":[134],"response":[138,185],"splenectomy:":[140],"above":[145],"70":[146,158],"achieved":[148],"blood":[150],"counts,":[151],"those":[152,164],"40":[156,168],"compensated":[161],"hemolysis,":[162],"below":[167],"improved":[170],"remained":[172],"anemic":[173],"0.0001).":[177],"We":[178],"conclude":[179],"that":[180],"pattern":[183],"reflect":[191],"as":[195],"determined":[196],"radioimmunoassay.":[198]},"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":3},{"year":2018,"cited_by_count":3},{"year":2017,"cited_by_count":2},{"year":2015,"cited_by_count":2},{"year":2013,"cited_by_count":2},{"year":2012,"cited_by_count":4}],"updated_date":"2026-10-27T15:51:10.671819","created_date":"2016-06-24T00:00:00"}