Distribution characteristics and clinical phenotype analyses of hemoglobin variants in the Z region of Central Guangxi, Southern China.

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  • Additional Information
    • Source:
      Publisher: Taylor & Francis Country of Publication: England NLM ID: 9708388 Publication Model: Print Cited Medium: Internet ISSN: 1607-8454 (Electronic) Linking ISSN: 10245332 NLM ISO Abbreviation: Hematology Subsets: MEDLINE
    • Publication Information:
      Publication: 2016- : Abingdon : Taylor & Francis
      Original Publication: [Amsterdam] : Newark, NJ : Harwood Academic Publishers ; International Publishers Distributor,
    • Subject Terms:
      Hemoglobins, Abnormal*/genetics ; Hemoglobins, Abnormal*/analysis ; Thalassemia*; Humans ; China/epidemiology ; Phenotype ; Asian People
    • Abstract:
      Objective: To investigate the molecular diagnosis of hemoglobin variants in Z region by Capillary electrophoresis in Central Guangxi, Southern China, and analyze their distribution and phenotypic characteristics, to provide a reference for clinical consultation and prenatal diagnosis for couples.
      Methods: A total of 23,709 subjects were collected for blood routine analysis, hemoglobin analysis, and common α- and β-globin gene loci in Chinese population. The hemoglobin electrophoresis components were divided into Zone 1-Zone 15 (Z1-Z15) by Capillary zone electrophoresis (CE). For samples not clearly detected by the conventional technology, Sanger sequencing, and multiplex ligation-dependent probe amplification (MLPA) were used. Single-molecule real-time (SMRT) sequencing technology was used to analyze rare-type genes in a sample with a structural variation.
      Results: Ten rare hemoglobin variants distributed in Z region were detected in 23,709 samples, including Hb Cibeles, which was reported for the first time in Asia; Hb J-Broussais, Hb G-Honolulu and J-Wenchang-Wuming, they were first reported in Guangxi; 1 case of Hb Anti-Lepore Liuzhou, which was a newly discovered hemoglobin variant; hemoglobin variants Hb G-Siriraj, Hb Handsworth, Hb Q-Thailand, Hb Ube-2, Hb NewYork were also detected.
      Conclusion: There are a few studies on rare hemoglobin variants in Z region in Southern China. Ten rare hemoglobin variants were found in this study. The hematological phenotype and component content of hemoglobin variants are related to the occurrence of thalassemia. This study enriched the data of rare hemoglobin variants in Southern China and provided a comprehensive data basis for prenatal diagnosis of hemoglobin variants in this area.
    • Contributed Indexing:
      Keywords: Hb Cibeles; Hb Z; Hb anti-Lepore Liuzhou; Thalassemia; clinical phenotype; distribution characteristics; rare hemoglobin variant; single-molecule real-time (SMRT)
    • Accession Number:
      0 (Hemoglobins, Abnormal)
    • Publication Date:
      Date Created: 20230330 Date Completed: 20230403 Latest Revision: 20230403
    • Publication Date:
      20250114
    • Accession Number:
      10.1080/16078454.2023.2188651
    • Accession Number:
      36995301