Spectrum of β-thalassemia mutations in Guizhou Province, PR China, including first observation of codon 121 (GAA>TAA) in Chinese population.
OBJECTIVE
Although the population prevalence and mutation spectrum of β-thalassemia in most areas of south China have been characterized, the mutations have not been elucidated in Guizhou Province. The aim of this study was to investigate the spectrum of β-thalassemia in this province.


METHODS
We detected and analyzed β-globin gene mutations in 407 β-thalassemia patients and carriers by PCR-based reverse dot blot (RBD) and direct sequencing methods.


RESULTS
Twelve types of β-globin gene mutations were detected. Among the 12 different mutations, six mutations are common, accounting for 97% of mutated alleles. The most prevalent mutation is codon 17 (A→T) with an allele frequency of 40.7%. In addition, codon 121 (GAA>TAA), a rare dominant mutation, was detected in a patient with β-thalassemia intermedia for the first time in China.


CONCLUSIONS
The results of this study will be useful in genetic counseling and prenatal diagnostic service of β-thalassemia in Guizhou Province.
Department of Laboratory, Guizhou Provincial People's Hospital, No. 83 East Zhongshan Road, Guiyang 550002, Guizhou, PR China. Electronic address: hsw713@sina.com.
Sheng-Wen
SW
Huang
Xing-Mei
XM
Liu
Gui-Fang
GF
Li
Li
L
Su
Xian
X
Wu
Ru-Lei
RL
Wang
D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002681:China / Q000453:epidemiology; D003062:Codon; D005787:Gene Frequency; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009154:Mutation; D055815:Young Adult; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000453:epidemiology* / Q000235:genetics*
D003062:Codon; D055544:beta-Globins
Hemoglobin disorder; Mutation; β-Globin gene; β-Thalassemia