Molecular epidemiological survey of hemoglobinopathies in the Wuxi region of Jiangsu Province, eastern China

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.