{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,12]],"date-time":"2025-12-12T07:10:50Z","timestamp":1765523450292,"version":"3.48.0"},"reference-count":24,"publisher":"Walter de Gruyter GmbH","issue":"2","funder":[{"DOI":"10.13039\/501100007288","name":"Mahasarakham University","doi-asserted-by":"publisher","award":["none"],"award-info":[{"award-number":["none"]}],"id":[{"id":"10.13039\/501100007288","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004071","name":"Khon Kaen University","doi-asserted-by":"publisher","award":["RP67-2-Research Center KKU-001"],"award-info":[{"award-number":["RP67-2-Research Center KKU-001"]}],"id":[{"id":"10.13039\/501100004071","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,5,13]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_dx-2024-0114_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>To describe rare genetic interactions of \u03b1-thalassemia alleles causing Hb H disease and Hb Bart\u2019s hydrops fetalis which could lead to diagnostic errors in a routine practice.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_dx-2024-0114_abs_002\">\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Hematological and molecular characterization were carried out in a Thai family with a risk of having fetus with Hb Bart\u2019s hydrops fetalis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_dx-2024-0114_abs_003\">\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Both parents were found to be the thalassemia intermedia patients associated with unusual forms of Hb H disease. DNA analysis of common \u03b1-thalassemia mutations in Thailand identified \u03b1\n                      <jats:sup>+<\/jats:sup>\n                      -thalassemia (-\u03b1\n                      <jats:sup>3.7 kb del<\/jats:sup>\n                      ) and unknown \u03b1\n                      <jats:sup>0<\/jats:sup>\n                      -thalassemia in the father and \u03b1\n                      <jats:sup>0<\/jats:sup>\n                      -thalassemia (--\n                      <jats:sup>SEA<\/jats:sup>\n                      ) with unknown \u03b1\n                      <jats:sup>+<\/jats:sup>\n                      -thalassemia in the mother. Fetal DNA analysis unlikely identified a homozygosity for \u03b1\n                      <jats:sup>0<\/jats:sup>\n                      -thalassemia (--\n                      <jats:sup>SEA<\/jats:sup>\n                      \/--\n                      <jats:sup>SEA<\/jats:sup>\n                      ). Further analysis identified that the father carried a rare South African \u03b1\n                      <jats:sup>0<\/jats:sup>\n                      -thalassemia in combination with \u03b1\n                      <jats:sup>+<\/jats:sup>\n                      -thalassemia (--\n                      <jats:sup>SA<\/jats:sup>\n                      \/-\u03b1), whereas the mother was a patient with Hb H-Queens Park disease (--\n                      <jats:sup>SEA<\/jats:sup>\n                      \/\u03b1\u03b1\n                      <jats:sup>QP<\/jats:sup>\n                      ). The fetus was, in fact, a compound heterozygote for (--\n                      <jats:sup>SA<\/jats:sup>\n                      \/--\n                      <jats:sup>SEA<\/jats:sup>\n                      ).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_dx-2024-0114_abs_004\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      As shown in this study, routine screening for \u03b1-thalassemia at prenatal diagnosis in the region should include both common and rare \u03b1\n                      <jats:sup>0<\/jats:sup>\n                      -thalassemia alleles found in the population to effectively prevent a fatal condition of Hb Bart\u2019s hydrops fetalis syndrome.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/dx-2024-0114","type":"journal-article","created":{"date-parts":[[2024,9,18]],"date-time":"2024-09-18T04:55:54Z","timestamp":1726635354000},"page":"256-261","source":"Crossref","is-referenced-by-count":0,"title":["Prenatal diagnostic errors in hemoglobin Bart\u2019s hydrops fetalis caused by rare genetic interactions of \u03b1-thalassemia"],"prefix":"10.1515","volume":"12","author":[{"given":"Kritsada","family":"Singha","sequence":"first","affiliation":[{"name":"Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences , Khon Kaen University , Khon Kaen , Thailand"},{"name":"Biomedical Science Research Unit, Faculty of Medicine , Mahasarakham University , Mahasarakham , Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Supawadee","family":"Yamsri","sequence":"additional","affiliation":[{"name":"Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences , Khon Kaen University , Khon Kaen , Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kanokwan","family":"Sanchaisuriya","sequence":"additional","affiliation":[{"name":"Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences , Khon Kaen University , Khon Kaen , Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Goonnapa","family":"Fucharoen","sequence":"additional","affiliation":[{"name":"Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences , Khon Kaen University , Khon Kaen , Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Supan","family":"Fucharoen","sequence":"additional","affiliation":[{"name":"Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences , Khon Kaen University , Khon Kaen , Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2024,9,18]]},"reference":[{"key":"2025121206462914270_j_dx-2024-0114_ref_001","doi-asserted-by":"crossref","unstructured":"Harteveld, CL, Higgs, DR. 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