title: [Molecular diagnosis for a novel deletion mutation of α thalassemia].
abstract: OBJECTIVE
  To raise awareness of the pathogenesis and diagnosis of thalassemia by reporting one case of α thalassemia patient with a large deletion fragment and analyzing the pedigree.
  
  
  METHODS
  Firstly, blood cells and hemoglobin electrophoresis analysis were used for screening of thalassemia, and then three common kinds of deletional α thalassemia in Chinese was detected by Gap-PCR, three common kinds of non- deletional α thalassemia and seventeen common mutations of β thalassemia in Chinese were analyzed by using PCR- RDB. The unknown mutation of samples was identified with Multiplex Ligation-dependent Probe Amplification (MLPA) and DNA sequencing.
  
  
  RESULTS
  The proband female presented with microcytic hypochromic anemia(hemoglobin 71 g/L, mean corpuscular volume 52.4 fl, mean corpuscular hemoglobin 16.1 pg), and hemoglobin A2 1.4%. The identified large deletion fragment length was 21 925 bp, so far which had not been reported in the world and was named -α²¹·⁹. It was registered in USA DNA database and GenBank accession number as KF360979. The genotype of her mother and father and brother were αα/-α²¹·⁹, --(SEA)/-α³·⁷, αα/-α³·⁷ respectively, and the genotype of her and her sister were the same of --(SEA)/-α²¹·⁹. Her husband gene of thalassemia had no mutation, so prenatal diagnosis of thalassemia was not carried out in the pregnant woman.
  
  
  CONCLUSIONS
  The discovery of -α(21.9) deletion mutation was enriched the DNA mutation gene database of thalassemia, and had important significance for genetic counseling and thalassemia prenatal diagnosis.
authors.affiliation: Department of Clinical Laboratory, the People's Hospital of Guangxi Zhuang Autonomous Region, Nanning 530021, China.
authors.forename: Youqiong
authors.initials: Y
authors.lastname: Li
authors.affiliation: Department of Clinical Laboratory, the People's Hospital of Guangxi Zhuang Autonomous Region, Nanning 530021, China.
authors.forename: Zhizhong
authors.initials: Z
authors.lastname: Chen
authors.affiliation: Department of Clinical Laboratory, the People's Hospital of Guangxi Zhuang Autonomous Region, Nanning 530021, China.
authors.forename: Lin
authors.initials: L
authors.lastname: Zhao
authors.affiliation: Department of Clinical Laboratory, the People's Hospital of Guangxi Zhuang Autonomous Region, Nanning 530021, China.
authors.forename: Lin
authors.initials: L
authors.lastname: Wang
authors.affiliation: Department of Clinical Laboratory, the People's Hospital of Guangxi Zhuang Autonomous Region, Nanning 530021, China.
authors.forename: Mao
authors.initials: M
authors.lastname: Tian
authors.affiliation: Department of Clinical Laboratory, the People's Hospital of Guangxi Zhuang Autonomous Region, Nanning 530021, China.
authors.forename: Huayi
authors.initials: H
authors.lastname: Huang
authors.affiliation: Department of Clinical Laboratory, the People's Hospital of Guangxi Zhuang Autonomous Region, Nanning 530021, China.
authors.forename: Guifang
authors.initials: G
authors.lastname: Qin
authors.affiliation: Department of Clinical Laboratory, the People's Hospital of Guangxi Zhuang Autonomous Region, Nanning 530021, China.
authors.forename: Shiping
authors.initials: S
authors.lastname: Chen
mesh_terms: D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D017384:Sequence Deletion; D055815:Young Adult; D017085:alpha-Thalassemia / Q000235:genetics*