Utility of long-read sequencing to delineate a rare large deletion of beta-globin gene which escaped Sanger sequencing at prenatal diagnosis in a family clustered with hereditary persistence of fetal hemoglobin.

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Title: Utility of long-read sequencing to delineate a rare large deletion of beta-globin gene which escaped Sanger sequencing at prenatal diagnosis in a family clustered with hereditary persistence of fetal hemoglobin.
Authors: Lee DJ; Department of Genomic Medicine, and Laboratory of Genetics and System Biology, Department of Research, Changhua Christian Hospital, Changhua, Taiwan., Chang SP; Department of Genomic Medicine, and Laboratory of Genetics and System Biology, Department of Research, Changhua Christian Hospital, Changhua, Taiwan., Liao MJ; Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua, Taiwan., Lee MH; Department of Genomic Medicine, and Laboratory of Genetics and System Biology, Department of Research, Changhua Christian Hospital, Changhua, Taiwan., Lin WH; Welgene Biotechnology Company, Nangang Business Park, Taipei, Taiwan., Chen PC; Biological Sciences Program, College of Liberal Arts and Sciences, University of Connecticut, CT, USA., Chen PY; Undergraduate Biology Program, College of Arts and Sciences, Stony Brook University, NYC, USA., Lin YS; Welgene Biotechnology Company, Nangang Business Park, Taipei, Taiwan., Ma GC; Department of Genomic Medicine, and Laboratory of Genetics and System Biology, Department of Research, Changhua Christian Hospital, Changhua, Taiwan. Electronic address: 128729@cch.org.tw., Chen M; Department of Genomic Medicine, and Laboratory of Genetics and System Biology, Department of Research, Changhua Christian Hospital, Changhua, Taiwan; Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua, Taiwan; Department of Medical Genetics, College of Medicine, and Hospital, National Taiwan University, Taipei, Taiwan; Department of Obstetrics and Gynecology, College of Medicine, and Hospital, National Taiwan University, Taipei, Taiwan; Department of Post-Baccalaureate Medicine, College of Medicine, National Chung Hsing Univeristy, Taichung Taiwan. Electronic address: mingchenmd@gmail.com.
Source: Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2025 Nov; Vol. 64 (6), pp. 1080-1084.
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Elsevier Country of Publication: China (Republic : 1949- ) NLM ID: 101213819 Publication Model: Print Cited Medium: Internet ISSN: 1875-6263 (Electronic) Linking ISSN: 10284559 NLM ISO Abbreviation: Taiwan J Obstet Gynecol Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1875-6263
DOI:10.1016/j.tjog.2025.04.022