{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,29]],"date-time":"2026-08-29T01:26:16Z","timestamp":1787966776991,"version":"build-2784847793"},"reference-count":40,"publisher":"Wiley","license":[{"start":{"date-parts":[[2023,10,4]],"date-time":"2023-10-04T00:00:00Z","timestamp":1696377600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Fujian Provincial Key Laboratory of Prenatal Diagnosis and Birth Defects open project","award":["cqzdsys-2022-01"],"award-info":[{"award-number":["cqzdsys-2022-01"]}]},{"name":"Fujian Provincial Key Laboratory of Prenatal Diagnosis and Birth Defects open project","award":["2021YX005"],"award-info":[{"award-number":["2021YX005"]}]},{"name":"Fujian Provincial Key Laboratory of Prenatal Diagnosis and Birth Defects open project","award":["2020N049s"],"award-info":[{"award-number":["2020N049s"]}]},{"DOI":"10.13039\/501100003815","name":"Huaqiao University","doi-asserted-by":"publisher","award":["cqzdsys-2022-01"],"award-info":[{"award-number":["cqzdsys-2022-01"]}],"id":[{"id":"10.13039\/501100003815","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003815","name":"Huaqiao University","doi-asserted-by":"publisher","award":["2021YX005"],"award-info":[{"award-number":["2021YX005"]}],"id":[{"id":"10.13039\/501100003815","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003815","name":"Huaqiao University","doi-asserted-by":"publisher","award":["2020N049s"],"award-info":[{"award-number":["2020N049s"]}],"id":[{"id":"10.13039\/501100003815","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Quanzhou City Science and Technology Project","award":["cqzdsys-2022-01"],"award-info":[{"award-number":["cqzdsys-2022-01"]}]},{"name":"Quanzhou City Science and Technology Project","award":["2021YX005"],"award-info":[{"award-number":["2021YX005"]}]},{"name":"Quanzhou City Science and Technology Project","award":["2020N049s"],"award-info":[{"award-number":["2020N049s"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2023,10,4]]},"abstract":"<jats:p>Objective. Increasingly rare thalassemia has been identified with the advanced use of long-read sequencing based on long-read technology. Here, we aim to present a novel \u03b4\/\u03b2-globin gene deletion identified by long-read sequencing technology. Methods. Enrolled in this study was a family from the Quanzhou region of Southeast China. Routine blood analysis and hemoglobin (Hb) capillary electrophoresis were used for hematological screening. Genetic testing for common \u03b1- and \u03b2-thalassemia was carried out using the reverse dot blot hybridization technique. Long-read sequencing was performed to detect rare globin gene variants. Specific gap-polymerase chain reaction (gap-PCR) and\/or Sanger sequencing were further used to verify the detected variants. Results. None of the common \u03b1- and \u03b2-thalassemia mutations or deletions were observed in the family. However, decreased levels of MCV, MCH, and abnormal Hb bands were observed in the family members, who were suspected as rare thalassemia carriers. Further, long-read sequencing demonstrated a large novel 7.414\u2009kb deletion NG_000007.3:g.63511_70924del partially cover HBB and HBD globin genes causing delta-beta fusion gene in the proband. Parental verification indicated that the deletion was inherited from the proband\u2019s father, while none of the globin gene variants were observed in the proband\u2019s mother. In addition, the novel \u03b4\/\u03b2-globin gene deletion was further verified by gap-PCR and Sanger sequencing. Conclusion. In this study, we first present a large novel \u03b4\/\u03b2-globin gene deletion in a Chinese family using long-read sequencing, which may cause \u03b4\u03b2-thalassemia. This study further enhances that long-read sequencing would be applied as a sharp tool for detecting rare and novel globin gene variants.<\/jats:p>","DOI":"10.1155\/2023\/2766625","type":"journal-article","created":{"date-parts":[[2023,10,4]],"date-time":"2023-10-04T22:50:08Z","timestamp":1696459808000},"page":"1-8","source":"Crossref","is-referenced-by-count":4,"title":["Long-Read Sequencing Identified a Large Novel \u03b4\/\u03b2-Globin Gene Deletion in a Chinese Family"],"prefix":"10.1155","volume":"2023","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8087-205X","authenticated-orcid":true,"given":"Jianlong","family":"Zhuang","sequence":"first","affiliation":[{"name":"Prenatal Diagnosis Center, Quanzhou Women\u2019s and Children\u2019s Hospital, Quanzhou, 362000 Fujian, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu","family":"Zheng","sequence":"additional","affiliation":[{"name":"Yaneng BIOscience (Shenzhen) Co., Ltd., Shenzhen, 518000 Guangdong, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuying","family":"Jiang","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center, Quanzhou Women\u2019s and Children\u2019s Hospital, Quanzhou, 362000 Fujian, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junyu","family":"Wang","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center, Quanzhou Women\u2019s and Children\u2019s Hospital, Quanzhou, 362000 Fujian, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuhong","family":"Zeng","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center, Quanzhou Women\u2019s and Children\u2019s Hospital, Quanzhou, 362000 Fujian, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nansong","family":"Liu","sequence":"additional","affiliation":[{"name":"Yaneng BIOscience (Shenzhen) Co., Ltd., Shenzhen, 518000 Guangdong, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198109243051316"},{"issue":"4","key":"2","first-page":"339","article-title":"Alpha and beta thalassemia","volume":"80","author":"H. 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