title: Co-inheritance of α-thalassaemia and β-thalassaemia in a prenatal screening population in mainland China.
abstract: OBJECTIVE
  To determine the prevalence of α-thalassaemia in β-thalassaemia individuals in a Chinese population.
  
  
  METHODS
  The standard diagnostic marker for β-thalassaemia was elevation of the Hb A2 level (>3.5%) with low mean corpuscular volume. The common α-thalassaemia mutations were studied by molecular analysis in all identified β-thalassaemia carriers.
  
  
  RESULTS
  A prevalence rate of 3.3% for β-thalassaemia was found in our population; α- and β-thalassaemia interactions were found to co-exist in 17.8% of the β-thalassaemia carriers. The -SEA deletion was the most common α-thalassaemia mutation co-inherited with β-thalassaemia, followed by the -α3.7 deletion, the -α4.2 deletion, Hb Quong Sze, and Hb Constant Spring.
  
  
  CONCLUSIONS
  Our results suggest that it could be valuable to study co-existing α-globin mutations in subjects with β-thalassaemia trait in a prenatal screening programme, especially in populations with a high prevalence of haemoglobinopathies.
authors.affiliation: Prenatal Diagnostic Center, Guangzhou Women & Children Medical Center affiliated to Guangzhou Medical University, Guangzhou, Guangdong, China.
authors.forename: Jian
authors.initials: J
authors.lastname: Li
authors.affiliation: Prenatal Diagnostic Center, Guangzhou Women & Children Medical Center affiliated to Guangzhou Medical University, Guangzhou, Guangdong, China.
authors.forename: Xing-Mei
authors.initials: XM
authors.lastname: Xie
authors.affiliation: Prenatal Diagnostic Center, Guangzhou Women & Children Medical Center affiliated to Guangzhou Medical University, Guangzhou, Guangdong, China.
authors.forename: Can
authors.initials: C
authors.lastname: Liao
authors.affiliation: Prenatal Diagnostic Center, Guangzhou Women & Children Medical Center affiliated to Guangzhou Medical University, Guangzhou, Guangdong, China lidongzhi2013@gmail.com.
authors.forename: Dong-Zhi
authors.initials: DZ
authors.lastname: Li
mesh_terms: D000510:Alpha-Globulins / Q000235:genetics; D044466:Asian People / Q000235:genetics*; D002681:China / Q000453:epidemiology; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis; D015995:Prevalence; D011446:Prospective Studies; D017085:alpha-Thalassemia / Q000175:diagnosis; D017086:beta-Thalassemia / Q000235:genetics
chemical_list: D000510:Alpha-Globulins; D006455:Hemoglobins, Abnormal; C045396:hemoglobin Quong Sze; C035541:Hemoglobin Constant Spring
keywords: Co-inheritance; prenatal screening; α-thalassaemia; β-thalassaemia