title: [Analysis of hematological characteristics on the 79 co-inheritance of α-thalassemia and β-thalassemia carriers in Guangxi].
abstract: OBJECTIVE
  To investigate the hematological characteristics of co-inheritance of α-thalassemia (α-thal) and β-thalassemia (β-thal) and to survey the incidence of co-inheritance of α-thal and β-thal in Guangxi.
  
  
  METHODS
  DNA samples from 370 primary and middle school students who were β-thal carriers in Guangxi were further processed for the α-goblin gene mutation screening, and were grouped based on the genotype of β- and α-goblin gene. The hematological indexes to the different groups were compared by One-way ANOVA.
  
  
  RESULTS
  Of the total 370 β-thal carriers, 79 were found to carry α-thal, which gave a frequency of 21.35% for β-thal carriers and 1.36% for coincidence of these two common disorders in the local population. As expected, the 79 patients presented very variable α-globin alterations in combination with β-globin mutations, showing 31 genotype combined with the coincidence of both Hb disorders. Except the genotypes of 3 β-thal heterozygotes combined with ααα(anti3.7) triplication and 2 β-thal carriers with IVS-II-654(C→T)/N combined-α(3.7)/αα presented the phenotype of thalassemia intermedia, and other 74 carriers with co-inheritance of α-thal and β-thal all presented the phenotype of β-thal trait. There were significant differences between β-thal heterozygotes and the carriers with a co-inheritance of both β+α(0) thal in MCH, MCV and Hb. In addition, there existed significant difference between the carriers with a co-inheritance of both β+α(+) thal and a co-inheritance of both β+α(0) thal in MCV, MCH and Hb.
  
  
  CONCLUSIONS
  Compared to that of β-thal heterozygotes, the carriers with a co-inheritance of α-thal and β-thal had slighter phenotype with hematological characteristics. It's difficult to distinguish the double heterozygotes with the co-inheritance of α-thal and β-thal from β-thal heterozygotes by hematological indexes, the molecular diagnosis should be performed.
authors: Department of Medical Genetics, Southern Medical University, Guangzhou, China.
authors: Fu
authors: F
authors: Xiong
authors: Ji-wu
authors: JW
authors: Lou
authors: Xiao-feng
authors: XF
authors: Wei
authors: Man-na
authors: MN
authors: Sun
authors: Ji-wei
authors: JW
authors: Huang
authors: Xuan
authors: X
authors: Shang
authors: Xin-hua
authors: XH
authors: Zhang
authors: Xiang-min
authors: XM
authors: Xu
mesh_terms: D002648:Child; D002681:China / Q000453:epidemiology; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D015994:Incidence; D008297:Male; D017085:alpha-Thalassemia / Q000097:blood / Q000453:epidemiology / Q000235:genetics*; D017086:beta-Thalassemia / Q000097:blood / Q000453:epidemiology / Q000235:genetics*