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 alpha-thalassemia (alpha-thal) carriers including three cases of the -alpha(3.7) (rightward) deletion, one case of the --(SEA) deletion and one case of beta-thal [IVS-II-654 (C>T), (HBB: c.316-197C> T)]. The incidence of Hb variants, thalassemia and HPFH/delta beta-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 [beta 26(B8) Glu -> Lys, GAG>AAG; HBB: c. 79G>A], Hb J-Bangkok [beta 56(D7) Gly -> Asp (GGC> GAC); HBB; c. 170G> A], Hb G-Coushatta [beta 22(4) Glu! Ala (GAA> GCA); HBB: c. 68A> C], Hb Queens [alpha 34(B15) Leu -> Arg (CTG> CGG) (alpha 2 or alpha 1); HBA2: c.104T> G (or HBA1)], Hb I [alpha 16(A14) Lys -> Glu, AAG> GAG (alpha 1); HBA1: c.49A> G], Hb Beijing [alpha 16(A14) Lys -> Asn (AAG> AAC or AAT) (alpha 2 or alpha 1); HBA2: c.51G> C (or HBA1) or 51G> T (or HBA1)], Hb Ube- 2 [alpha 68(E17) Asn -> Asp (AAC> GAC) (alpha 2 or alpha 1); HBA2: c. 205A> G (or HBA1)] and Hb G-Taipei [beta 22(B4) Glu -> Gly (GAA> GGA); HBB: c.68A> G]. A Sicilian delta beta(0)-thal, identified for the first time in Asia, was also found in this survey.