{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T13:23:13Z","timestamp":1777728193376,"version":"3.51.4"},"reference-count":12,"publisher":"SAGE Publications","issue":"11","license":[{"start":{"date-parts":[[2020,11,1]],"date-time":"2020-11-01T00:00:00Z","timestamp":1604188800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"Science and Technology Program of Guangzhou, China","award":["202002030390"],"award-info":[{"award-number":["202002030390"]}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of Guangdong, China","doi-asserted-by":"crossref","award":["2016A030313787"],"award-info":[{"award-number":["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":[[2020,11]]},"abstract":"<jats:p>\n                    We report two unrelated cases of compound heterozygosity for hemoglobin (Hb) variant Broomhill and the Southeast Asian (- -\n                    <jats:sup>SEA<\/jats:sup>\n                    \/) \u03b1-thalassemia deletion, whose clinical features and laboratory findings have never been reported. Hematological analyses revealed abnormal values for both cases as \u03b1-thalassemia traits, and capillary electrophoresis suggested an abnormal peak that was incompletely separated from the Hb A peak. A suspension array system and Sanger sequencing were used to characterize the genotypes. Sanger sequencing confirmed the presence of Hb Broomhill [\u03b1114(GH2)Pro\u2192Ala; HBA1: c.343C&gt;G]. Eventually, both cases were accurately diagnosed as compound heterozygotes for Hb Broomhill and the (- -\n                    <jats:sup>SEA<\/jats:sup>\n                    \/) \u03b1-thalassemia deletion, which is the first known report of these variants. This information will be useful when providing appropriate genetic counselling and prenatal diagnosis.\n                  <\/jats:p>","DOI":"10.1177\/0300060520967825","type":"journal-article","created":{"date-parts":[[2020,11,20]],"date-time":"2020-11-20T00:58:46Z","timestamp":1605833926000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["Compound heterozygosity for hemoglobin variant Hb-Broomhill and the Southeast Asian \u03b1-thalassemia deletion does not worsen outcome: a case report of two unrelated patients"],"prefix":"10.1177","volume":"48","author":[{"given":"Danqing","family":"Qin","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":"Thalassemia Diagnosis Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li","family":"Du","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":"Thalassemia Diagnosis Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jicheng","family":"Wang","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":"Thalassemia Diagnosis Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong, 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