Analysis of deletional hereditary persistence of fetal hemoglobin/δβ‐thalassemia and δ‐globin gene mutations in Southerwestern China. Issue 6 (1st May 2019)

• Record Type: Journal Article
• Authors: Zhang, Jie; Yang, Yang; Li, Peng; Yan, Yuanlong; Lv, Tao; Zhao, Tingting; Zeng, Xiaohong; Li, Dongmei; Zhou, Xiaoyan; Chen, Hong; Su, Jie; Yang, Tonghua; He, Jing; Zhu, Baosheng
• Is Part Of: Molecular genetics & genomic medicine. Volume 7:Issue 6(2019)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2019-05-01
• Subjects: bioinformatics analysis -- capillary electrophoresis -- hereditary persistence of fetal hemoglobin -- δ‐thalassemia; Medical genetics -- Periodicals; Genomics -- Periodicals; 616.042
• DOI: 10.1002/mgg3.706
• Languages: English
• ISSNs: 2324-9269

Abstract

Abstract: Background: Deletional hereditary persistence of fetal hemoglobin (HPFH)/δβ‐thalassemia and δ‐thalassemia are rare inherited disorders which may complicate the diagnosis of β‐thalassemia. The aim of this study was to reveal the frequency of these two disorders in Southwestern China. Methods: A total of 33, 596 subjects were enrolled for deletional HPFH/δβ‐thalassemia, and positive individuals with high fetal hemoglobin (Hb F) level were diagnosed by multiplex ligation‐dependent probe amplification (MLPA). A total of 17, 834 subjects were analyzed for mutations in the δ‐globin gene. Positive samples with low Hb A2 levels were confirmed by δ‐globin gene sequencing. Furthermore, the pathogenicity and construction of a selected δ‐globin mutation were analyzed. Results: A total of 92 suspected cases with Hb F ≥5.0% were further characterized by MLPA. Eight different deletional HPFH/δβ‐thalassemia were observed at a frequency of 0.024%. In addition, 195 cases suspected to have a δ‐globin gene mutation (Hb A2 ≤2.0%) were characterized by molecular analysis. δ‐Globin gene mutation was found at a frequency of 0.49% in Yunnan. The pathogenicity and construction for a selected δ‐globin mutation was predicted. Conclusion: Screening of these two disorders was analyzed in Southwestern China, which could define the molecular basis of these conditions in this population. Abstract : The frequency, clinical and hematological phenotypes of deletional hereditary persistence of fetal hemoglobin (HPFH)/δβ-thalassemia and δ-globin mutations in the population of Yunnan province of Southwestern China were analyzed. These results could define the molecular basis of these conditions in populations of Yunnan.