Molecular Epidemiological Investigation of Thalassemia in the Chengdu Region, Sichuan Province, Southwest China.
Thalassemia is the most common inherited disease in southern China. However, this disorder is usually ignored by the health system in the Sichuan Province due to the lack of epidemiological data. To provide basic epidemiological data for thalassemia screening, genetic counseling, and prenatal diagnosis (PND) in the Chengdu region, a total of 3262 healthy subjects were assessed by complete blood count (CBC), reverse dot-blot gene chip, gap-polymerase chain reaction (gap-PCR), and PCR-DNA sequencing. A frequency of heterozygous thalassemia of 3.43% (112/3262) was found, of which 2.21% (72/3262) patients carried α-thalassemia (α-thal), 1.19% (39/3262) β-thalassemia (β-thal) and 0.3% (1/3262) hereditary persistence of fetal hemoglobin (Hb) (HPFH)/δβ-thalassemia (δβ-thal). Four types of α-thal mutations were found, the most prevalent being - -(SEA) (68.06%), followed by -α(3.7) (rightward deletion, 25.0%), Hb Quong Sze (Hb QS; HBA2: c.377 T > C) (4.17%), and -α(4.2) (leftward deletion, 2.78%). The seven β-thal mutations included: codons 41/42 (-TTCT), HBB: c.126_129delCTTT (13/39, 33.33%); codon 17 (A > T), HBB: c.52 A > T (11/39, 28.95%); IVS-II-654 (C > T), HBB: c.316-197 C > T (9/39, 23.68%); -28 (A > G), HBB: c.-78 A > G (3/39, 7.69%); -29 (A > G), HBB: c.-79 A > G (1/39, 2.56%); codons 27/28 (+C), HBB: c.84_85insC (1/39, 2.56%), and the rare IVS-II-850 (G > T), HBB: c.316-1 G > T (1/39, 2.56%). Only one case of the Southeast Asian HPFH deletion was found. This is the first detailed molecular epidemiological survey of thalassemia in the Chengdu region, Sichuan Province, People's Republic of China (PRC).
a Department of Medical Laboratory , Chengdu Women's & Children's Central Hospital , Chengdu , Sichuan Province , People's Republic of China.
Xia
X
Yu
b Central Laboratory , Chaozhou Central Hospital Affiliated to Southern Medical University , Chaozhou , Guangdong Province , People's Republic of China.
Li-Ye
LY
Yang
b Central Laboratory , Chaozhou Central Hospital Affiliated to Southern Medical University , Chaozhou , Guangdong Province , People's Republic of China.
Hui-Tian
HT
Yang
a Department of Medical Laboratory , Chengdu Women's & Children's Central Hospital , Chengdu , Sichuan Province , People's Republic of China.
Cheng-Gui
CG
Liu
a Department of Medical Laboratory , Chengdu Women's & Children's Central Hospital , Chengdu , Sichuan Province , People's Republic of China.
Deng-Cheng
DC
Cao
a Department of Medical Laboratory , Chengdu Women's & Children's Central Hospital , Chengdu , Sichuan Province , People's Republic of China.
Wei
W
Shen
b Central Laboratory , Chaozhou Central Hospital Affiliated to Southern Medical University , Chaozhou , Guangdong Province , People's Republic of China.
Hui
H
Yang
b Central Laboratory , Chaozhou Central Hospital Affiliated to Southern Medical University , Chaozhou , Guangdong Province , People's Republic of China.
Xiao-Fen
XF
Zhan
c Department of Parasitology , College of Basic Medicine, Hubei University of Medicine , Shiyan Province , Hubei , People's Republic of China.
Jian
J
Li
d Department of Medical Laboratory , Mianyang Central Hospital , Mianyang , Sichuan Province , People's Republic of China.
Bing-Rong
BR
Xue
b Central Laboratory , Chaozhou Central Hospital Affiliated to Southern Medical University , Chaozhou , Guangdong Province , People's Republic of China.
Min
M
Lin
D000293:Adolescent; D000328:Adult; D000483:Alleles; D002681:China / Q000453:epidemiology; D005787:Gene Frequency; D006801:Humans; D008403:Mass Screening; D008875:Middle Aged; D009154:Mutation; D011159:Population Surveillance; D013789:Thalassemia / Q000453:epidemiology* / Q000235:genetics*; D055815:Young Adult; D055542:alpha-Globins / Q000235:genetics; D055544:beta-Globins / Q000235:genetics
D055542:alpha-Globins; D055544:beta-Globins
Chengdu region; molecular epidemiology survey; prenatal diagnosis (PND); thalassemia