title: [Analysis of clinical features and genotype in three Chinese pedigrees with Glanzmann thrombasthenia].
abstract: OBJECTIVE
  To study the clinical feature and alpha II b beta 3 gene mutations of three Glanzmann thrombasthenia (GT) pedigrees.
  
  
  METHODS
  Platelet counts (BPC), blood film, bleeding time, platelet aggregation and flow cytometry were used for phenotype diagnosis of all the patients. All the exons of alpha II b and beta 3 genes were amplified by polymerase chain reaction (PCR) and direct sequencing was performed for mutational screening. One hundred and three healthy blood donors were as normal controls.
  
  
  RESULTS
  Three probands showed normal BPC, defective platelets aggregation, prolonged bleeding time and significantly reduced platelet aggregation to ADP, epinephrine, and collagen, while relatively normal aggregation to ristocetin. Flow cytometry showed platelet surface expressed alpha II b beta 3 was strongly reduced in proband 1 and proband 3 and mildly reduced in the amount of surface expressed alpha II b beta 3 (63%) in proband 2. Sequencing results showed that proband 1 had a G10A homozygous mutation in alpha II b, and a G1412T homozygous mutation in beta3. Compound heterozygous mutations in beta3, G1199A and 1525delC were identified in proband 2. No mutations in alpha II b beta 3 gene were identified in proband 3.
  
  
  CONCLUSIONS
  Compound homozygous mutations, GI0A in alpha II b and G1412T in beta3, lead to GT in proband 1. Compound heterozygous mutations in beta3, G1199A and 1525delC, lead to GT in proband 2. The mutations of G10A, G1412T and 1525delC were reported for the first time in GT patients.
authors.affiliation: Clinical Transfusion Department, Shanghai Institute of Hematology, Ruijin Hospital, Medical College of Shanghai Jiaotong University, Shanghai 200025, China.
authors.forename: Pei-Pei
authors.initials: PP
authors.lastname: Jin
authors.forename: Wei-Zhang
authors.initials: WZ
authors.lastname: Shen
authors.forename: Fang
authors.initials: F
authors.lastname: Yang
authors.forename: Qiu-Lan
authors.initials: QL
authors.lastname: Ding
authors.forename: Xue-Feng
authors.initials: XF
authors.lastname: Wang
authors.forename: Xiao-Dong
authors.initials: XD
authors.lastname: Xi
authors.forename: Hong-Li
authors.initials: HL
authors.lastname: Wang
mesh_terms: D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D040201:Platelet Membrane Glycoprotein IIb / Q000235:genetics*; D013915:Thrombasthenia / Q000235:genetics*
chemical_list: D040201:Platelet Membrane Glycoprotein IIb