{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T13:02:31Z","timestamp":1777726951597,"version":"3.51.4"},"reference-count":18,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2021,2,1]],"date-time":"2021-02-01T00:00:00Z","timestamp":1612137600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"Medical Science and Technology Research Project of Guangdong Province","award":["Grant No. A2018260"],"award-info":[{"award-number":["Grant No. A2018260"]}]},{"name":"Medical Science and Technology Research Project of Guangdong Province","award":["Grant No. A2019358"],"award-info":[{"award-number":["Grant No. A2019358"]}]},{"name":"Medical Science and Technology Research Project of Guangdong Province","award":["Grant No. B2019010"],"award-info":[{"award-number":["Grant No. B2019010"]}]},{"name":"Science and Technology Program of Guangzhou, China","award":["Grant No. 202002030390"],"award-info":[{"award-number":["Grant No. 202002030390"]}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of Guangdong, China","doi-asserted-by":"crossref","award":["Grant No.2016A030313787"],"award-info":[{"award-number":["Grant No.2016A030313787"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Int Med Res"],"published-print":{"date-parts":[[2021,2]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      We describe 2 unusual haemoglobin (Hb) Bart\u2019s hydrops cases that could not be explained by traditional factors. Case presentation: Two families with a diagnosis or history of foetal hydrops were enrolled. A suspension-array system was used to detect the 23 most frequent mutations in southern China. Multiplex ligation-dependent probe amplification (MLPA) was used to screen for possible deletions. Precise characterisation of the breakpoints of the novel variants and uniparental disomy analysis were performed using a single nucleotide polymorphism (SNP) array. Quantitative fluorescence PCR was used to eliminate maternal cell contamination and nonpaternity. In case 1, the suspension-array system indicated a maternal heterozygous (\u2013\n                      <jats:sup>SEA<\/jats:sup>\n                      \/) deletion, and the paternal sample was negative. The foetal hydrops was caused by the maternal (\u2013\n                      <jats:sup>SEA<\/jats:sup>\n                      \/) deletion and a de novo \u03b1-globin gene deletion (\u2013\n                      <jats:sup>193<\/jats:sup>\n                      ). In case 2, the paternal sample had a heterozygous (\u2013\n                      <jats:sup>SEA<\/jats:sup>\n                      \/) deletion, and MLPA and SNP array analysis revealed a large maternal deletion (\u2013\n                      <jats:sup>227<\/jats:sup>\n                      ) that encompassed the \u03b1-globin gene, which explained the history of Hb Bart\u2019s foetal hydrops.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      Our cases describe 2 new \u03b1\n                      <jats:sup>0<\/jats:sup>\n                      -thalassaemia deletions and illustrate the importance of using a combination of methods to detect rare types of \u03b1-thalassaemia.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/0300060521993642","type":"journal-article","created":{"date-parts":[[2021,2,20]],"date-time":"2021-02-20T23:54:48Z","timestamp":1613865288000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["Characterisation of two unusual cases of haemoglobin Bart\u2019s hydrops foetalis caused by \u2013\n                    <sup>SEA<\/sup>\n                    and large novel \u03b1-globin gene cluster deletions"],"prefix":"10.1177","volume":"49","author":[{"given":"Yunan","family":"Wang","sequence":"first","affiliation":[{"name":"Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China"},{"name":"Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China"},{"name":"Guangdong Thalassemia Diagnostic Center, Guangzhou, Guangdong, 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China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0849-9876","authenticated-orcid":false,"given":"Jing","family":"Wu","sequence":"additional","affiliation":[{"name":"Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China"},{"name":"Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China"},{"name":"Guangdong Thalassemia Diagnostic Center, Guangzhou, Guangdong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xin","family":"Zhao","sequence":"additional","affiliation":[{"name":"Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China"},{"name":"Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China"},{"name":"Guangdong Thalassemia Diagnostic Center, Guangzhou, Guangdong, 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