{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,23]],"date-time":"2026-05-23T13:06:10Z","timestamp":1779541570247,"version":"3.53.1"},"reference-count":17,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2026,3,15]],"date-time":"2026-03-15T00:00:00Z","timestamp":1773532800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,3,15]],"date-time":"2026-03-15T00:00:00Z","timestamp":1773532800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","award":["304354\/2024\u20104"],"award-info":[{"award-number":["304354\/2024\u20104"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Blood &amp;amp; Cancer"],"published-print":{"date-parts":[[2026,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Hemoglobinopathies are prevalent globally; diagnosis is complex in high genetic admixture populations like Brazil. We report, in two pediatric siblings, the first documented cases in Brazil of heterozygosity for hemoglobin (Hb) O\u2010Arab with coinheritance of \u03b1\u2010thalassemia (\u03b1\u03b1\/\u2212\u03b1\n                    <jats:sup>4.2<\/jats:sup>\n                    ; \u2212\u03b1\n                    <jats:sup>3.7<\/jats:sup>\n                    \/\u2212\u03b1\n                    <jats:sup>4.2<\/jats:sup>\n                    ), resulting in microcytic and hypochromic anemia. Electrophoresis, high\u2010performance liquid chromatography,\n                    <jats:italic>HBB<\/jats:italic>\n                    gene sequencing, and multiplex\u2010polymerase chain reaction confirmed these complex genotypes. Although rare, Hb O\u2010Arab significantly impacts clinical status, particularly in patients with coexisting hemoglobinopathies, such as \u03b1\u2010thalassemia and Hb S, the latter resulting in a sickle cell disease form. This highlights the crucial role of molecular diagnostics, early screening, and genetic counseling in the accurate management and prevention of misdiagnosis in hemoglobinopathies.\n                  <\/jats:p>","DOI":"10.1002\/1545-5017.70201","type":"journal-article","created":{"date-parts":[[2026,3,16]],"date-time":"2026-03-16T05:58:18Z","timestamp":1773640698000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Molecular Methods for Rare Hemoglobinopathy Cases: First Brazilian Report of Pediatric Siblings with Hb O\u2010Arab and Alpha\u2010Thalassemia"],"prefix":"10.1002","volume":"73","author":[{"given":"Elis\u00e2ngela de Souza Miranda","family":"Muynarsk","sequence":"first","affiliation":[{"name":"Institute of Biosciences Humanities and Exact Sciences Biosciences Postgraduate Program UNESP \u2010 S\u00e3o Paulo State University  S\u00e3o Jos\u00e9 do Rio Preto SP Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8861-1548","authenticated-orcid":false,"given":"Amanda Cristina Meneguetti","family":"Berti","sequence":"additional","affiliation":[{"name":"Institute of Biosciences Humanities and Exact Sciences Biosciences Postgraduate Program UNESP \u2010 S\u00e3o Paulo State University  S\u00e3o Jos\u00e9 do Rio Preto SP Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00e1rbara Braga Vieira","family":"Marques","sequence":"additional","affiliation":[{"name":"Institute of Biosciences Humanities and Exact Sciences Biosciences Postgraduate Program UNESP \u2010 S\u00e3o Paulo State University  S\u00e3o Jos\u00e9 do Rio Preto SP Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victoria Sim\u00f5es","family":"Bernardo","sequence":"additional","affiliation":[{"name":"Institute of Biosciences Humanities and Exact Sciences Biosciences Postgraduate Program UNESP \u2010 S\u00e3o Paulo State University  S\u00e3o Jos\u00e9 do Rio Preto SP Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Flaviene Felix","family":"Torres","sequence":"additional","affiliation":[{"name":"Institute of Biosciences Humanities and Exact Sciences Biosciences Postgraduate Program UNESP \u2010 S\u00e3o Paulo State University  S\u00e3o Jos\u00e9 do Rio Preto SP Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid Souza","family":"Dias","sequence":"additional","affiliation":[{"name":"Molecular Biology and Genetics Laboratory UFMS \u2010 Federal University of Mato Grosso Do Sul  Tr\u00eas Lagoas MS Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vanessa da Silveira Ramos de","family":"Castro","sequence":"additional","affiliation":[{"name":"Molecular Biology and Genetics Laboratory UFMS \u2010 Federal University of Mato Grosso Do Sul  Tr\u00eas Lagoas MS Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriela Alves","family":"Bernardino","sequence":"additional","affiliation":[{"name":"HEMOMAR \u2010 Hematology and Hemotherapy Center of Maranh\u00e3o  S\u00e3o Lu\u00eds MS Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danilo Gr\u00fcnig Humberto da","family":"Silva","sequence":"additional","affiliation":[{"name":"Institute of Biosciences Humanities and Exact Sciences Biosciences Postgraduate Program UNESP \u2010 S\u00e3o Paulo State University  S\u00e3o Jos\u00e9 do Rio Preto SP Brazil"},{"name":"Molecular Biology and Genetics Laboratory UFMS \u2010 Federal University of Mato Grosso Do Sul  Tr\u00eas Lagoas MS Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edis","family":"Belini\u2010J\u00fanior","sequence":"additional","affiliation":[{"name":"Molecular Biology and Genetics Laboratory UFMS \u2010 Federal University of Mato Grosso Do Sul  Tr\u00eas Lagoas MS Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,3,15]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/ijlh.13885"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2017.09.004"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1101\/cshperspect.a011858"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.labcli.2014.10.002"},{"issue":"3","key":"e_1_2_10_6_1","first-page":"511","article-title":"Redkie varianty Hb D Punjab, Hb O Arab i Polimorfizm Gemoglobina cheloveka [Rare variants of Hb D Punjab, Hb O Arab and polymorphism of human hemoglobins]","volume":"22","author":"Spivak V. A.","year":"1986","journal-title":"Genetika"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.2147\/ijgm.s421140"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1590\/1980\u2010549720190007.supl.2"},{"key":"e_1_2_10_9_1","volume-title":"Sambrook Russel\u2014Molecular Cloning, a Laboratory Manual\u2014Vol. 1, 2, 3","year":"2000"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V95.1.360"},{"issue":"4","key":"e_1_2_10_11_1","first-page":"479","article-title":"The Implications of Haemoglobin O\u2010Arab Mutation","volume":"6","author":"Papadopoulos V.","year":"2003","journal-title":"Haematologica"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2025.1616766"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096\u20108652(199904)60:4<279::AID\u2010AJH5>3.0.CO;2\u20102"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.v110.11.3802.3802"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598\u2010019\u201047313\u20102"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.4084\/MJHID.2021.001"},{"key":"e_1_2_10_17_1","first-page":"1","volume-title":"Haemoglobinopathy Diagnosis","author":"Bain B. 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