Prevalence and genotypes of alpha- and beta-thalassemia carriers in Hong Kong -- implications for population screening
- PMID:9113933
- DOI: 10.1056/NEJM199705013361805
Prevalence and genotypes of alpha- and beta-thalassemia carriers in Hong Kong -- implications for population screening
Abstract
Background: The thalassemias are common in southern China. We determined the prevalence of heterozygous carriers of these genetic disorders in Hong Kong and assessed the feasibility of a community-based screening program.
Methods: An educational and screening program for the thalassemias was carried out in three high schools with a total of 2420 students. Seventy-five percent of the students agreed to undergo screening, which consisted of blood counts, hemoglobin electrophoresis, serum ferritin measurements, and DNA analyses.
Results: Of the 1800 blood samples tested, 150 (8.3 percent) had microcytosis (mean corpuscular volume, <80 microm3). Ninety students (5.0 percent) were carriers of alpha-thalassemia, of whom 81 (4.5 percent) were carriers of the Southeast Asian type of deletion, in which both alpha-globin genes on the same chromosome 16 are deleted. Sixty-one students (3.4 percent) were carriers of either beta-thalassemia or the mutation coding for hemoglobin E. Six students were carriers of both alpha- and beta-thalassemias. On the basis of these figures, the estimated numbers of pregnancies in Hong Kong in which the fetus is at risk for homozygous alpha-thalassemia and beta-thalassemia major or intermedia are 145 and 80 per year, respectively. In Hong Kong the actual numbers of women referred for prenatal diagnoses of these disorders are approximately 95 and 40 per year, respectively.
Conclusions: Despite the availability of hospital-based screening and prenatal diagnosis for many years in Hong Kong, many women carrying fetuses at risk for thalassemia are not referred for genetic counseling. A community-based program of education, screening, and counseling is needed in Hong Kong and southern China.
Comment in
- Screening for genetic diseases.Motulsky AG.Motulsky AG.N Engl J Med. 1997 May 1;336(18):1314-6. doi: 10.1056/NEJM199705013361810.N Engl J Med. 1997.PMID:9113938No abstract available.
Similar articles
- [A study on gene mutation spectrums of α- and β-thalassemias in populations of Yunnan Province and the prenatal gene diagnosis].Zhu BS, He J, Zhang J, Zeng XH, Su J, Xu XH, Li SY, Chen H, Zhang YH.Zhu BS, et al.Zhonghua Fu Chan Ke Za Zhi. 2012 Feb;47(2):85-9.Zhonghua Fu Chan Ke Za Zhi. 2012.PMID:22455737Chinese.
- [Large-scale population-based genetic screening and prenatal diagnosis for thalassemias in Zhuhai City of Guangdong Province].Zhou YQ, Shang X, Yin BM, Xiong F, Xiao QZ, Zhou WJ, Zhang YL, Xu XM.Zhou YQ, et al.Zhonghua Fu Chan Ke Za Zhi. 2012 Feb;47(2):90-5.Zhonghua Fu Chan Ke Za Zhi. 2012.PMID:22455738Chinese.
- [A community-based genetic screening of large-scale population and prenatal diagnosis for alpha and beta thalassemia in Zhuhai city of Guangdong province].Zhou YQ, Mo QH, Lu JH, Li LY, Liang X, Jia SQ, Xiao GF, Zhou WJ, Xiao QZ, Xu XM.Zhou YQ, et al.Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008 Jun;25(3):256-61.Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008.PMID:18543211Chinese.
- Molecular study and prenatal diagnosis of alpha- and beta-thalassemias in Chinese.Ko TM, Xu X.Ko TM, et al.J Formos Med Assoc. 1998 Jan;97(1):5-15.J Formos Med Assoc. 1998.PMID:9481058Review.
- Molecular Epidemiology and Hematologic Characterization of Thalassemia in Guangdong Province, Southern China.Xian J, Wang Y, He J, Li S, He W, Ma X, Li Q.Xian J, et al.Clin Appl Thromb Hemost. 2022 Jan-Dec;28:10760296221119807. doi: 10.1177/10760296221119807.Clin Appl Thromb Hemost. 2022.PMID:35979587Free PMC article.Review.
Cited by
- Predicting future blood demand from thalassemia major patients in Hong Kong.Lau EH, He XQ, Lee CK, Wu JT.Lau EH, et al.PLoS One. 2013 Dec 11;8(12):e81846. doi: 10.1371/journal.pone.0081846. eCollection 2013.PLoS One. 2013.PMID:24349138Free PMC article.
- Clinical manifestations of α-thalassemia.Vichinsky EP.Vichinsky EP.Cold Spring Harb Perspect Med. 2013 May 1;3(5):a011742. doi: 10.1101/cshperspect.a011742.Cold Spring Harb Perspect Med. 2013.PMID:23543077Free PMC article.Review.
- Alpha0 thalassaemia as a result of a novel 11.1 kb deletion eliminating both of the duplicated alpha globin genes.Jia SQ, Li J, Mo QH, Liao C, Li LY, Xu XM.Jia SQ, et al.J Clin Pathol. 2004 Feb;57(2):164-7. doi: 10.1136/jcp.2003.12856.J Clin Pathol. 2004.PMID:14747442Free PMC article.
- Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.Chau JFT, Yu MHC, Chui MMC, Yeung CCW, Kwok AWC, Zhuang X, Lee R, Fung JLF, Lee M, Mak CCY, Ng NYT, Chung CCY, Chan MCY, Tsang MHY, Chan JCK, Chan KYK, Kan ASY, Chung PHY, Yang W, Lee SL, Chan GCF, Tam PKH, Lau YL, Yeung KS, Chung BHY, Tang CSM.Chau JFT, et al.NPJ Genom Med. 2022 Mar 21;7(1):23. doi: 10.1038/s41525-022-00287-z.NPJ Genom Med. 2022.PMID:35314707Free PMC article.
- The prevalence and molecular spectrum of α- and β-globin gene mutations in 14,332 families of Guangdong Province, China.Yin A, Li B, Luo M, Xu L, Wu L, Zhang L, Ma Y, Chen T, Gao S, Liang J, Guo H, Qin D, Wang J, Yuan T, Wang Y, Huang WW, He WF, Zhang Y, Liu C, Xia S, Chen Q, Zhao Q, Zhang X.Yin A, et al.PLoS One. 2014 Feb 27;9(2):e89855. doi: 10.1371/journal.pone.0089855. eCollection 2014.PLoS One. 2014.PMID:24587075Free PMC article.
Publication types
MeSH terms
Related information
LinkOut - more resources
Full Text Sources
Other Literature Sources