title: [Genotype Analysis of Hemoglobinopathy in Chinese Jiangsu Population].
abstract: OBJECTIVE
  To investigate the genotype distribution of hemoglobinopathy in Chinese Jiangsu population.
  
  
  METHODS
  A total of 4115 samples were screened for hemaglobinopathy by using MCV combined with erythrocyte fragility tests and HPLC. Thalassemia genotypes were identified by Gap-PCR and Recerse Dot blot. PCR-DNA sequencing and PCR-elecrophoresis were used as supplement of PCR-RBD and for identifying the mutants of globin gene of abnormal hemoglobin.
  
  
  RESULTS
  The positive screening rate was 6.10% (251/4115) in Chinese Jiangsu population, 232 cases received thalassemia genotype diagnosis and from them 195 people were positive. In all positive ones, α-thalassemia, β-thalassemia, α-thalassemia combined with β-thalassemia, SEA-HPFH and SEA-HPFH combined with β-thalassemia were found respectively to be 31.28% (61/232), 66.15% (129/232), 1.54% (3/232), 0.43% (1/232) and 0.43% (1/232) of patients. The majority genotype of α-thalassemia was - - (SEA) and IVS-II-654 was the main genotype of β-thalassemia, 11 cases of abnormal hemoglobin were found, including 3 cases of Hb E, 1 Hb Kenitra, 1 Hb Seattle, 1 Hb Saitama, 1 Hb Bushwick, 1 Hb Koln and 1 Hb M-Milwaukee-2.
  
  
  CONCLUSIONS
  The main hemoglobinpathy is thalassemia in Chinese Jiangsu province and the HPLC play an important role in screening hemoglobinpathy. There is reference value of this study for genetic counseling and prenatal diagnosis.
authors.affiliation: Jiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, Co-laboratorial Innovation Center of Hematology, The First Affiliated Hospital of Soochow University, Suzhou 215006, Jiangsu Province, China.
authors.forename: Wen-Juan
authors.initials: WJ
authors.lastname: Wang
authors.affiliation: Jiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, Co-laboratorial Innovation Center of Hematology, The First Affiliated Hospital of Soochow University, Suzhou 215006, Jiangsu Province, China.
authors.forename: Jun-Dan
authors.initials: JD
authors.lastname: Xie
authors.affiliation: Jiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, Co-laboratorial Innovation Center of Hematology, The First Affiliated Hospital of Soochow University, Suzhou 215006, Jiangsu Province, China.
authors.forename: Qian
authors.initials: Q
authors.lastname: Wang
authors.affiliation: Jiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, Co-laboratorial Innovation Center of Hematology, The First Affiliated Hospital of Soochow University, Suzhou 215006, Jiangsu Province, China.
authors.forename: Ting-Ting
authors.initials: TT
authors.lastname: Tao
authors.affiliation: Jiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, Co-laboratorial Innovation Center of Hematology, The First Affiliated Hospital of Soochow University, Suzhou 215006, Jiangsu Province, China.
authors.forename: Hong
authors.initials: H
authors.lastname: Yao
authors.affiliation: Jiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, Co-laboratorial Innovation Center of Hematology, The First Affiliated Hospital of Soochow University, Suzhou 215006, Jiangsu Province, China.
authors.forename: Li-Jun
authors.initials: LJ
authors.lastname: Wen
authors.affiliation: Jiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, Co-laboratorial Innovation Center of Hematology, The First Affiliated Hospital of Soochow University, Suzhou 215006, Jiangsu Province, China.
authors.forename: You-Ning
authors.initials: YN
authors.lastname: Zhou
authors.affiliation: Jiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, Co-laboratorial Innovation Center of Hematology, The First Affiliated Hospital of Soochow University, Suzhou 215006, Jiangsu Province, China. E-mail: chensuning@sina.com.
authors.forename: Su-Ning
authors.initials: SN
authors.lastname: Chen
mesh_terms: D044466:Asian People; D005260:Female; D005838:Genotype; D006453:Hemoglobinopathies; D006455:Hemoglobins, Abnormal; D006801:Humans; D016133:Polymerase Chain Reaction; D011247:Pregnancy
chemical_list: D006455:Hemoglobins, Abnormal