title: [Gene Diagnosis and Analysis of Clinical Hematological Phenotype of Thailand Deleted α-Thalassemia 1].
abstract: OBJECTIVE
  To investigate the hematologic characteristics and gene diagnosis of patients with Thailand deleted α-thalassemia 1, so as to provide the information for clinical genetic counseling.
  
  
  METHODS
  The clinical data of 32 patients with Thailand delated α-thalassemia 1 were analyzed retrospectively; the hematologic characteristics and gene diagnosis of Thailand deleted type were investigated by using routine hematologic examination, genetic detection of common thalassemia and Thailand deleted α-thalassemia 1.
  
  
  RESULTS
  Among 32 cases, the Thailand deleted α-thalassemia 1 heterozygote was found in 29 cases, the Thailand deleted α-thalassemia 1 and α(3.7) gene deletion double heterozygote were found in 1 case, the Thailand deleted α-thalassemia 1 with β-thalassemia (1 case with codons 41-42 mutation heterozygous, 1 case with CD17 mutation heterozygous) was found in 2 cases by detection. The MCV and MCH levels were decreased in all cases of Thailand deleted thalassemia 1, there were significant differences in RBC, MCV, MCH (P<0.05) between normal control and Thailand deletion α-thalassemia 1 group; there were also significant differences in MCHC (P<0.05) between Southeast asia thalassemia and Thailand deleted α-thalassemia 1 group.
  
  
  CONCLUSIONS
  There are no significant differences in hematological parameters except MCHC between Southeast asia thalassemia and Thailand deleted α-thalassemia 1 group. moreover the Thailand deleted α-thalassemia 1 in a certain proportion exists in area with high incidence of thalassemia, therefor the clinicians should pay more attention to the screen and diagnosis of Thailand delated α-thalassemia and can exactly diagnose the Thailand delected α-thalassemia 1 on the basis of comprehensive analysis of conventional and Thailand delected α-thalassemia 1 detection results, clinical presentation, hematologic parameters and ultrasonic examination, so as to avoid the birth of child with severe and intermidiate type α-thalassemia caused by Thailand deleted α-thalassemia 1.
authors.affiliation: Fujian Maternity and Children Health Hospital, Fujian Medical University Teaching Hospital, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou 350001, Fujian Province, China.
authors.forename: Na
authors.initials: N
authors.lastname: Lin
authors.affiliation: Fujian Maternity and Children Health Hospital, Fujian Medical University Teaching Hospital, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou 350001, Fujian Province, China.
authors.forename: Hai-Long
authors.initials: HL
authors.lastname: Huang
authors.affiliation: Fujian Maternity and Children Health Hospital, Fujian Medical University Teaching Hospital, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou 350001, Fujian Province, China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Wang
authors.affiliation: Fujian Maternity and Children Health Hospital, Fujian Medical University Teaching Hospital, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou 350001, Fujian Province, China.
authors.forename: Lin
authors.initials: L
authors.lastname: Zheng
authors.affiliation: Fujian Maternity and Children Health Hospital, Fujian Medical University Teaching Hospital, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou 350001, Fujian Province, China.
authors.forename: Xiang-Qun
authors.initials: XQ
authors.lastname: Fang
authors.affiliation: Fujian Maternity and Children Health Hospital, Fujian Medical University Teaching Hospital, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou 350001, Fujian Province, China.
authors.forename: Mei-Ying
authors.initials: MY
authors.lastname: Cai
authors.affiliation: Fujian Maternity and Children Health Hospital, Fujian Medical University Teaching Hospital, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou 350001, Fujian Province, China.
authors.forename: Lin-Shuo
authors.initials: LS
authors.lastname: Wang
authors.affiliation: Department of Cell and Genetics, Fujian Medical University, Fuzhou 350001, Fujian Province, China.
authors.forename: He-Kun
authors.initials: HK
authors.lastname: Liu
authors.affiliation: Fujian Maternity and Children Health Hospital, Fujian Medical University Teaching Hospital, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou 350001, Fujian Province, China.
authors.forename: Liang-Pu
authors.initials: LP
authors.lastname: Xu
authors.affiliation: Fujian Maternity and Children Health Hospital, Fujian Medical University Teaching Hospital, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou 350001, Fujian Province, China.
authors.forename: Yuan
authors.initials: Y
authors.lastname: Lin
mesh_terms: D017353:Gene Deletion; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D010641:Phenotype; D013785:Thailand; D017085:alpha-Thalassemia; D017086:beta-Thalassemia