title: Rapid Screening for Deleted Form of β-thalassemia by Real-Time Quantitative PCR.
abstract: BACKGROUND
  Thalassemia is the most common single gene disease in human beings. The prevalence rate of β-thalassemia in Taiwan is approximately 1-3%. Previously methods to reveal and diagnose severe deleted form of α- or β-thalassemia were insufficient and inappropriate for prenatal diagnosis.
  
  
  METHODS
  A real-time quantitative PCR method was set up for rapid screening of the deleted form of β-thalassemia.
  
  
  RESULTS
  Our results show that ΔΔCt between deleted form of β-thalassemia and normal individuals were 1.0674 ± 0.0713. On the contrary, mutation form β-thalassemia showed no difference with normal healthy control. The HBB/CCR5 ratio for deleted form of β-thalassemia patients was 0.48, whether normal individuals and mutation form of β-thalassemia was 1.0.
  
  
  CONCLUSIONS
  This RQ-PCR technique is an alternative rapid screening assay for deleted form of β-thalassemia. In addition, it could also identify undefined type. Our technique by using RQ-PCR to quantify gene copies is a reliable and time-saving method that can screen deleted form of β-thalassemia.
authors.affiliation: Department of Laboratory Medicine, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.|Department of Medical Laboratory Science and Biotechnology, KMU, Kaohsiung, Taiwan.
authors.forename: Liang-Yin
authors.initials: LY
authors.lastname: Ke
authors.affiliation: Department of Laboratory Medicine, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.|Graduate Institute of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.
authors.forename: Jan-Gowth
authors.initials: JG
authors.lastname: Chang
authors.affiliation: Graduate Institute of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.|Division of Hematology-Oncology, Department of Internal Medicine, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.
authors.forename: Chao-Sung
authors.initials: CS
authors.lastname: Chang
authors.affiliation: Department of Laboratory Medicine, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.
authors.forename: Li-Ling
authors.initials: LL
authors.lastname: Hsieh
authors.affiliation: Department of Laboratory Medicine, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.|Graduate Institute of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.|Division of Hematology-Oncology, Department of Internal Medicine, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.
authors.forename: Ta-Chih
authors.initials: TC
authors.lastname: Liu
mesh_terms: D006801:Humans; D008403:Mass Screening; D009154:Mutation / Q000235:genetics*; D009691:Nucleic Acid Denaturation; D012150:Polymorphism, Restriction Fragment Length; D060888:Real-Time Polymerase Chain Reaction / Q000379:methods*; D017086:beta-Thalassemia / Q000175:diagnosis*
keywords: real-time quantitative PCR; β-thalassemia