title: Current status of thalassemia in minority populations in Guangxi, China.
abstract: 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.
authors.affiliation: Division of Human Genetics, Department of Pediatrics, University of California, Irvine, CA 92697, USA.
authors.forename: H F
authors.initials: HF
authors.lastname: Pan
authors.forename: G F
authors.initials: GF
authors.lastname: Long
authors.forename: Q
authors.initials: Q
authors.lastname: Li
authors.forename: Y N
authors.initials: YN
authors.lastname: Feng
authors.forename: Z Y
authors.initials: ZY
authors.lastname: Lei
authors.forename: H W
authors.initials: HW
authors.lastname: Wei
authors.forename: Y Y
authors.initials: YY
authors.lastname: Huang
authors.forename: J H
authors.initials: JH
authors.lastname: Huang
authors.forename: N
authors.initials: N
authors.lastname: Lin
authors.forename: Q Q
authors.initials: QQ
authors.lastname: Xu
authors.forename: S Y
authors.initials: SY
authors.lastname: Ling
authors.forename: X J
authors.initials: XJ
authors.lastname: Chen
authors.forename: T
authors.initials: T
authors.lastname: Huang
mesh_terms: 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