title: Haematological and electrophoretic characterisation of β-thalassaemia in Yunnan province of Southwestern China.
abstract: β-Thalassaemia is widely found in Southwestern China. Characterisation of β-thalassaemia can improve screening and prenatal diagnosis for at-risk populations.
  
  
  
  A retrospective study.
  
  
  
  In this study, the levels of haemoglobin alpha 2 (HbA2) and haemoglobin alpha (HbA) were analysed by gender for a total of 15 067 subjects screened by capillary electrophoresis. The cut-off value with the highest accuracy was established to identify β-thalassaemia in 723 patients suspected to have this disease. Haematological and electrophoretic characterisation of eight common types of β-thalassaemia were analysed in 486 β-thalassaemia subjects.
  
  
  
  HbA levels were significantly higher in men than in women, but there was no significant difference on HbA2levels. A new cut-off value for the diagnosis of β-thalassaemia (HbA2≥4.0%) with the highest accuracy was proposed for the studied populations. Haemoglobin (Hb) was significantly higher in men compared with women (p<0.05), whereas no statistically significant differences were found for mean cell volume (MCV), mean cell haemoglobin (MCH), HbA and HbA2. The haemoglobin E (HbE) group showed comparatively higher values for haematological indices (Hb, MCV and MCH) than the other genotypes in heterozygous β-thalassaemia groups (p<0.05), and -28 (A>G) (HBB (β-globin):c.-78A>C) had signiﬁcantly higher HbA2values compared with other β-thalassaemia.
  
  
  
  Ethnic groups have diversified β-globin gene mutations and considerable haematological variations. Our study will lay the foundation for screening programmes and clinical management of thalassaemia in Southwestern China.
authors.affiliation: Yunnan Provincial Key Laboratory For Birth Defects and Genetic Diseases, Genetic Diagnosis Center, the First People's Hospital of Yunnan Province, Kunming, China.|Genetics Department, Kunming University of Science and Technology.
authors.forename: Jie
authors.initials: J
authors.lastname: Zhang
authors.affiliation: Yunnan Provincial Key Laboratory For Birth Defects and Genetic Diseases, Genetic Diagnosis Center, the First People's Hospital of Yunnan Province, Kunming, China.|Genetics Department, Kunming University of Science and Technology.
authors.forename: Jing
authors.initials: J
authors.lastname: He
authors.affiliation: Department of Clinical Laboratory, The First People's Hospital of Yunnan Province, Kunming, China.
authors.forename: Xiaoqin
authors.initials: X
authors.lastname: Mao
authors.affiliation: Yunnan Provincial Key Laboratory For Birth Defects and Genetic Diseases, Genetic Diagnosis Center, the First People's Hospital of Yunnan Province, Kunming, China.|Genetics Department, Kunming University of Science and Technology.
authors.forename: Xiaohong
authors.initials: X
authors.lastname: Zeng
authors.affiliation: Yunnan Provincial Key Laboratory For Birth Defects and Genetic Diseases, Genetic Diagnosis Center, the First People's Hospital of Yunnan Province, Kunming, China.|Genetics Department, Kunming University of Science and Technology.
authors.forename: Hong
authors.initials: H
authors.lastname: Chen
authors.affiliation: Yunnan Provincial Key Laboratory For Birth Defects and Genetic Diseases, Genetic Diagnosis Center, the First People's Hospital of Yunnan Province, Kunming, China.|Genetics Department, Kunming University of Science and Technology.
authors.forename: Jie
authors.initials: J
authors.lastname: Su
authors.affiliation: Yunnan Provincial Key Laboratory For Birth Defects and Genetic Diseases, Genetic Diagnosis Center, the First People's Hospital of Yunnan Province, Kunming, China.|Genetics Department, Kunming University of Science and Technology.
authors.forename: Baosheng
authors.initials: B
authors.lastname: Zhu
mesh_terms: D000293:Adolescent; D000328:Adult; D001797:Blood Protein Electrophoresis; D002681:China; D004909:Erythrocyte Indices / Q000235:genetics; D005260:Female; D006441:Hemoglobin A / Q000378:metabolism*; D006443:Hemoglobin A2 / Q000378:metabolism*; D006446:Hemoglobin E / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D012372:ROC Curve; D012189:Retrospective Studies; D012737:Sex Factors; D055815:Young Adult; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000097:blood* / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*
chemical_list: D055544:beta-Globins; D006441:Hemoglobin A; D006443:Hemoglobin A2; D006446:Hemoglobin E
keywords: capillary electrophoresis; cut-off value; hematological and biochemical parameter values; mutation; thalassemia