1. Molecular epidemiological survey of hemoglobinopathies in the Wuxi region of Jiangsu Province, eastern China
- Author
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Zhi-He Yan, Long-Xu Xie, Jiao-Ren Wu, Min Lu, Fen Lin, Qian Wang, Chun-Ping Lin, Shu-Yan Zheng, Zhi-Jun Han, Min Lin, Xiao-Fen Zhan, Li-Ye Yang, Hui Yang, Zhao-Yun Luo, Yan Wang, Jing-Bo Liu, Juan-Juan Zhu, Lei Zheng, Jia-Kun Zheng, and Yue Huang
- Subjects
Adult ,Male ,medicine.medical_specialty ,China ,Thalassemia ,Hemoglobins, Abnormal ,Clinical Biochemistry ,DNA Mutational Analysis ,Polymerase Chain Reaction ,law.invention ,Hemoglobins ,Asian People ,law ,Genotype ,Epidemiology ,medicine ,Humans ,Multiplex ligation-dependent probe amplification ,Genetics (clinical) ,Polymerase chain reaction ,Molecular Epidemiology ,Geography ,Incidence (epidemiology) ,Biochemistry (medical) ,Eastern china ,Hematology ,medicine.disease ,Virology ,Health Surveys ,Blood Cell Count ,Hemoglobinopathies ,Mutation ,Female ,Hemoglobin - Abstract
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(3.7) (rightward) deletion, one case of the - -(SEA) deletion and one case of β-thal [IVS-II-654 (CT), (HBB: c.316-197CT)]. 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, GAGAAG; HBB: c.79GA], Hb J-Bangkok [β56(D7)Gly→Asp (GGCGAC); HBB; c.170GA], Hb G-Coushatta [β22(4)Glu→Ala (GAAGCA); HBB: c.68AC], Hb Queens [α34(B15)Leu→Arg (CTGCGG) (α2 or α1); HBA2: c.104TG (or HBA1)], Hb I [α16(A14)Lys→Glu, AAGGAG (α1); HBA1: c.49AG], Hb Beijing [α16(A14)Lys→Asn (AAGAAC or AAT) (α2 or α1); HBA2: c.51GC (or HBA1) or 51GT (or HBA1)], Hb Ube-2 [α68(E17)Asn→Asp (AACGAC) (α2 or α1); HBA2: c.205AG (or HBA1)] and Hb G-Taipei [β22(B4)Glu→Gly (GAAGGA); HBB: c.68AG]. A Sicilian δβ(0)-thal, identified for the first time in Asia, was also found in this survey.
- Published
- 2013