Molecular Epidemiological Survey of Hemoglobinopathies in the Wuxi Region of Jiangsu Province, Eastern China. (October 2013)

• Record Type: Journal Article
• Authors: Lin, Min; Han, Zhi-Jun; Wang, Qian; Zheng, Lei; Wang, Yan; Yang, Hui; Huang, Yue; Lin, Fen; Zhan, Xiao-Fen; Lin, Chun-Ping; Wu, Jiao-Ren; Luo, Zhao-Yun; Liu, Jing-Bo; Yan, Zhi-He; Zheng, Shu-Yan; Zheng, Jia-Kun; Lu, Min; Zhu, Juan-Juan; Xie, Long-Xu; Yang, Li-Ye
• Is Part Of: Hemoglobin. Volume 37:Number 5(2013)
• Page Start: 454
• Page End: 466
• Publication Date: 2013-10
• Subjects: Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• DOI: 10.3109/03630269.2013.807285
• Languages: English
• ISSNs: 0363-0269

Abstract

<abstract> <title> <x xml:space="preserve">Abstract</x> </title> <p>In order to determine the prevalence and molecular characterization of hemoglobinopathies in the Wuxi region of Jiangsu Province in the People's Republic of China (PRC), a total of 10, 297 healthy people selected from a regional hospital were screened. Hemoglobin (Hb) electrophoresis, complete blood cell (CBC) count, polymerase chain reaction (PCR), DNA sequencing, reverse dot-blot and multiplex ligation-dependent probe amplification (MLPA) were used to detect Hb variants, thalassemias and hereditary persistence of fetal Hb (HPFH). Two thousand and twenty-one adult subjects were screened for thalassemia, five cases were identified as α-thalassemia (α-thal) carriers including three cases of the –α<sup>3.7</sup> (rightward) deletion, one case of the – –<sup>SEA</sup> deletion and one case of β-thal [IVS-II-654 (C>T), (<italic>HBB</italic>: c.316-197C>T)]. The incidence of Hb variants, thalassemia and HPFH/δβ-thal were 0.136% (14/10, 297), 0.25% (5/2021) and 0.0001% (1/10, 297), respectively. Eight genotypes of Hb variants were found, including Hb E [β26(B8)Glu→Lys, <italic>G</italic>AG><italic>A</italic>AG; <italic>HBB</italic>: c.79G>A], Hb J-Bangkok [β56(D7)Gly→Asp (G<italic>G</italic>C>G<italic>A</italic>C); <italic>HBB</italic>; c.170G>A], Hb G-Coushatta [β22(4)Glu→Ala (G<italic>A</italic>A>G<italic>C</italic>A); <italic>HBB</italic>: c.68A>C], Hb Queens [α34(B15)Leu→Arg (C<italic>T</italic>G>C<italic>G</italic>G) (α2 or α1); <italic>HBA</italic>2: c.104T>G (or <italic>HBA1</italic>)], Hb I [α16(A14)Lys→Glu, <italic>A</italic>AG><italic>G</italic>AG (α1); <italic>HBA1</italic>: c.49A>G], Hb Beijing [α16(A14)Lys→Asn (AA<italic>G</italic>>AA<italic>C</italic> or AA<italic>T</italic>) (α2 or α1); <italic>HBA2</italic>: c.51G>C (or <italic>HBA1</italic>) or 51G>T (or <italic>HBA1</italic>)], Hb Ube-2 [α68(E17)Asn→Asp (<italic>A</italic>AC><italic>G</italic>AC) (α2 or α1); <italic>HBA2</italic>: c.205A>G (or <italic>HBA1</italic>)] and Hb G-Taipei [β22(B4)Glu→Gly (G<italic>A</italic>A>G<italic>G</italic>A); <italic>HBB</italic>: c.68A>G]. A Sicilian δβ<sup>0</sup>-thal, identified for the first time in Asia, was also found in this survey.</p> </abstract>