{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:04:44Z","timestamp":1753869884249,"version":"3.41.2"},"reference-count":15,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T00:00:00Z","timestamp":1694736000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Case 1 presented with severe anemia and received an intrauterine blood cell transfusion at 33\u00a0weeks of gestation. The anemia spontaneously improved in early infancy. Case 2, the father of Case 1, had an uneventful birth with no evidence of anemia, though microcytic anemia was observed during childhood. The genetic analysis of the \u03b2\u2010globin gene cluster identified a novel heterozygous deletion of DNA extending from the G\u03b3\u2010globin gene downstream to the \u03b2\u2010globin gene, confirming a diagnosis of (<jats:sup>G<\/jats:sup>\u03b3<jats:sup>A<\/jats:sup>\u03b3\u03b4\u03b2)<jats:sup>0<\/jats:sup>\u2010thalassemia. In cases where thalassemia is suspected based on blood tests, a genetic diagnosis should be performed for the sake of the offspring.<\/jats:p>","DOI":"10.1002\/pbc.30666","type":"journal-article","created":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T12:58:56Z","timestamp":1694782736000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["(G\u03b3A\u03b3\u03b4\u03b2)0$({}^{\\rm G}{\\gamma}{}^{\\rm A}{\\gamma}\\delta\\beta)^0$\u2010Thalassemia: Report of two cases in a family"],"prefix":"10.1002","volume":"70","author":[{"given":"Mana","family":"Tomiyama","sequence":"first","affiliation":[{"name":"Department of Pediatrics Seirei Hamamatsu General Hospital  Shizuoka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saki","family":"Takayama","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Seirei Hamamatsu General Hospital  Shizuoka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroko","family":"Konno","sequence":"additional","affiliation":[{"name":"Division of Perinatology Fetal Diagnosis and Therapy Maternal and Perinatal Care Center Seirei Hamamatsu General Hospital  Shizuoka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3212-1782","authenticated-orcid":false,"given":"Takeshi","family":"Murakoshi","sequence":"additional","affiliation":[{"name":"Division of Perinatology Fetal Diagnosis and Therapy Maternal and Perinatal Care Center Seirei Hamamatsu General Hospital  Shizuoka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masafumi","family":"Koga","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine Hakuhokai Central Hospital  Hyogo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Momoko","family":"Nakamura","sequence":"additional","affiliation":[{"name":"Division of Clinical Laboratory Science Faculty of Health Sciences Yamaguchi University School of Medicine  Yamaguchi Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasuhiro","family":"Yamashiro","sequence":"additional","affiliation":[{"name":"Division of Clinical Laboratory Science Faculty of Health Sciences Yamaguchi University School of Medicine  Yamaguchi Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5974-8775","authenticated-orcid":false,"given":"Tadashi","family":"Matsubayashi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Seirei Hamamatsu General Hospital  Shizuoka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,9,15]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"crossref","unstructured":"NienhuisAW NathanDG.Pathophysiology and clinical manifestations of the \u03b2\u2010thalassemias. Cold Spring Harb Perspect Med. doi:10.1101\/cshperspect.a011726","DOI":"10.1101\/cshperspect.a011726"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200001063420102"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1080\/10245332.2015.1133007"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2009.007534"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00277-020-04252-7"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpedsurg.2021.04.018"},{"key":"e_1_2_7_8_1","doi-asserted-by":"crossref","unstructured":"FotziI PegoraroF ChioccaE et\u00a0al.Case report: clinical and hematological characteristics of \u03b5\u03b3\u03b4\u03b2\u2010thalassemia in an Italian patient. Front Pediatr. doi:10.3389\/fped.2022.839775","DOI":"10.3389\/fped.2022.839775"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tmrv.2014.03.003"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jcp.2008.056945"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1159\/000206744"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.17555"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(97)80061-3"},{"issue":"6","key":"e_1_2_7_14_1","first-page":"199","article-title":"Hemolytic disease of the newborn and chronic hypochromic microcytic anemia in one family: gamma\u2010delta\u2010beta thalassemia","volume":"49","author":"Oort M","year":"1981","journal-title":"Tijdschr Kindergeneeskd"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/ejh.12047"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V76.10.2132.2132"}],"container-title":["Pediatric Blood &amp; Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pbc.30666","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T13:39:03Z","timestamp":1698068343000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/pbc.30666"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,9,15]]},"references-count":15,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2023,12]]}},"alternative-id":["10.1002\/pbc.30666"],"URL":"https:\/\/doi.org\/10.1002\/pbc.30666","archive":["Portico"],"relation":{},"ISSN":["1545-5009","1545-5017"],"issn-type":[{"type":"print","value":"1545-5009"},{"type":"electronic","value":"1545-5017"}],"subject":[],"published":{"date-parts":[[2023,9,15]]},"assertion":[{"value":"2023-06-05","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-08-29","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-09-15","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e30666"}}