Current status of thalassemia in minority populations in Guangxi, China.
Thalassemia is one of the most common monogenic disorders in the world. In order to develop a community-based prevention program, we screened 12,900 individuals for alpha- and beta-thalassemia in Baise City, Guangxi, China, with hematological methods and molecular assays. We found that the frequency of carriers in this area for alpha-thalassemia is 15%. Beta-thalassemia carriers comprise 4.8% of the populations. Five mutations account for 98% of alpha-thalassemia [--SEA 46.7%; -alpha/4.2, 23.9%; -alpha/3.7, 21.7%; hemoglobin (Hb) Constant Spring, 6.5%; Hb Quong Sze, 1.1%]. Seven mutations in the beta-globin gene account for 99% of the mutations [codon (CD) 41/42 (-TCTT) (39.4%), CD 17(A-->T) (32%), CD 71/72 (+A) (7.4%), -28 (A-->G) (5.8%), IVS-2-654 (C-->T) (5.8%), CD26 (Hb E) (4%), IVS-1 (G-->A) (3.7%), and CD 43(G-->T) (1.9%)]. Most individuals with alpha-thalassemia major die in the uterus or shortly after birth. Among 106 patients with beta-thalassemia major followed by our clinic, the majority died before 5 years of age. Knowledge surveys about thalassemia were conducted. Our results show a severe lack of knowledge about thalassemia in both medical professionals and in the general populations. This study shows that thalassemia is a very severe public health issue in minority populations in Baise City, China. Identification of the common mutations will allow us to design cost-effective molecular tests. There is an urgent need to educate the general population and the medical community for a successful community-based prevention program.
Pan
H F
HF
Division of Human Genetics, Department of Pediatrics, University of California, Irvine, CA 92697, USA.
Long
G F
GF
Li
Q
Q
Feng
Y N
YN
Lei
Z Y
ZY
Wei
H W
HW
Huang
Y Y
YY
Huang
J H
JH
Lin
N
N
Xu
Q Q
QQ
Ling
S Y
SY
Chen
X J
XJ
Huang
T
T
D000293:Adolescent; D002648:Child; D002681:China; D005260:Female; D006801:Humans; D008297:Male; D008913:Minority Groups; D008957:Models, Genetic; D009154:Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis; D015995:Prevalence; D013789:Thalassemia / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics