Epidemiology of Hemoglobinopathies in the Huzhou Region, Zhejiang Province, Southeast China.

The aim of the present study was to report the frequency of thalassemia traits and other hemoglobinopathies in Huzhou City, Zhejiang Province, People's Republic of China (PRC), and for the future management of hemoglobinopathies. A total of 8578 pregnant women in the Huzhou region was analyzed for thalassemia traits and other hemoglobinopathies from July 1 2012 to November 30 2015. Complete blood count (CBC), and hemoglobin (Hb) variant analyses were performed with automatic counters and capillary electrophoresis (CE). High resolution melting (HRM) analysis was applied for genetic diagnosis of thalassemia. The prevalence of patients with the α-thalassemia (α-thal) trait was 1.01% (87/8578). ß-Thalassemia (ß-thal) was carried by 112 women with a frequency of 1.3%. The carrier rate of thalassemia genes in the studied samples was nearly 2.32%. We excluded those without iron studies, with 159 cases as our sample, a total of 63/159 cases (39.6%) also had iron deficiencies. Moreover, Hb E (HBB: c.79G > A), and Hb D-Punjab (HBB: c.364G > C) were the most common Hb variants after thalassemia trait with frequencies of 0.16 and 0.06%, respectively. Only two Hb S (HBB: c.20A > T) carriers were detected in 20 months of screening time. Hb A1c results could be confidently reported on all cases except the Hb D-Punjab and Hb E variants. This study provided a detailed prevalence and molecular characterization of thalassemia in the Huzhou region, and will contribute toward the development of prevention strategies and reducing excessive health care costs in this area, allowing better management of hemoglobinopathies.

[Application of gene array chip in diagnosis of cytogenetics of recurrent spontaneous abortion].

OBJECTIVE: To investigate clinical value of single nucleotide polymorphism array (SNP-array) gene chip technique in diagnosis of genetics of recurrent spontaneous abortion(RSA). METHODS: From January to October 2012, the 26 patients with more than twice of spontaneous abortion in Huzhou Maternal and Child Health Care Hospital were enrolled in this study(RSA group). Meanwhile 20 cases with induced abortion were taken as control group. All aborted tissues were analyzed with conventional cytogenetic karyotyping and SNP-array, respectively. RESULTS: Chorionic villus chromosomal examination was successfully done in 19 cases (73%, 19/26) , which 10 cases were found with chromosomal anomaly, the overall detection rate is 10/19. However, SNP-array analysis was successfully performed in all 26 cases. The overall rate of detection was 100%, and abnormalities were found in 15 cases, which reached the detection rate was 58% (15/26). Chorionic villus chromosomal examination was successfully done in 16 cases (16/20) in control group, and none of the resluts was chomosomal anomaly; SNP-array analysis was successfully performed in all 20 cases (20/20), and none was found abnormalities. CONCLUSION: SNP-array gene chip technique showed highly accurate feature, which could be used in cytogenetic diagnosis of recurrent spontaneous abortion.