Molecular spectrum of α- and β-globin gene mutations detected in the population of Guangxi Zhuang Autonomous Region, People's Republic of China

Hemoglobin

Volumn 35, Issue 1, 2011, Pages 28-39

  Zheng, Chen Guang ^a   Liu, Ming ^b,c   Du, Juan ^a   Chen, Ke ^a   Yang, Yige ^c   Yang, Ze ^a,c  

^a Guangxi Zhuang Autonomous Region Women and Children Care Hospital   (China)

^b GRADUATE SCHOOL OF PEKING UNION MEDICAL COLLEGE   (China)

^c BEIJING HOSPITAL   (China)

Author keywords

Globin gene; Mutations; Thalassemia

Indexed keywords

ALPHA GLOBIN; BETA GLOBIN;

ALLELE; ALPHA THALASSEMIA; ALPHA THALASSEMIA INTERMEDIA; ANEMIA; ARTICLE; BETA THALASSEMIA; BLOOD ANALYSIS; CHINA; CODON; CONTROLLED STUDY; DISEASE ASSOCIATION; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC RISK; GENOTYPE; GLOBIN GENE; HUMAN; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; RISK ASSESSMENT; THALASSEMIA MAJOR; THALASSEMIA MINOR;

ALLELES; ALPHA-GLOBINS; ALPHA-THALASSEMIA; BETA-GLOBINS; BETA-THALASSEMIA; CHINA; CODON; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENOTYPE; HEMATOLOGIC TESTS; HUMANS; POINT MUTATION; POPULATION SURVEILLANCE; RISK ASSESSMENT; SEVERITY OF ILLNESS INDEX;

EID: 79952157478     PISSN: 03630269     EISSN: 1532432X     Source Type: Journal    
DOI: 10.3109/03630269.2010.547429     Document Type: Article

References (17)

1. Weatherall DJ. Keynote address: The challenge of thalassemia for the developing countries. Ann NY Acad Sci. 2005;1054(1):11-17. (Pubitemid 43031005)
2. Xu XM, Zhou YQ, Luo GX, et al. The prevalence and spectrum of α and β thalassaemia in Guangdong Province: implications for the future health burden and population screening. J Clin Pathol. 2004;57(5):517-522. (Pubitemid 38621798)
3. Pan HF, Long GF, Li Q, et al. Current status of thalassemia in minority populations in Guangxi, China. Clin Genet. 2007;71(5):419-426.
4. Cai R, Liu JZ, Wang LR, et al. Study on molecular epidemiology of the α-thalassemias in Liuzhou City, Guangxi Autonomous Region, China. Hemoglobin. 2004;28(4):325-333. (Pubitemid 39579266)
5. Hardison RC, Chui DHK, Giardine B, et al. Hb Var: a relational database of human hemoglobin variants and thalassemia mutations at the globin gene server. Hum Mutat. 2002;19(3):225-233 (http://globin.cse.psu.edu).
6. Xiong F, Sun M, Zhang X, et al. Molecular epidemiological survey of haemoglobinopathies in the Guangxi Zhuang Autonomous Region of southern China. Clin Genet. 2010;78(2):139-148.
7. Clark BE, Thein SL. Molecular diagnosis of haemoglobin disorders. Clin Lab Haematol. 2004;26(3):159-176. (Pubitemid 38736859)
8. Giardine B, van Baal S, Kaimakis P, et al. HbV ardatabase of human hemoglobin variants and thalassemia mutations: 2007 update. Hum Mutat. 2007;28(2):206 (http://globin.cse.psu.edu).
9. Lau YL, Chan LC, Chan YY, et al. Prevalence and genotypes of α- and β-thalassemia carriers in Hong Kong-implications for population screening. N Engl J Med. 1997;336(18):1298-301.
10. Zhang CM, Wang Y, Gao LS, et al. Molecular epidemiology investigation of β-thalassemia in Zhongshan City, Guangdong Province, People's republic of China. Hemoglobin. 2010;34(1):55-60.
11. Svasti S, Hieu TM, Munkongdee T, et al. Molecular analysis of β-thalassemia in South Vietnam. Am J Hematol. 2002;71(2):85-88.
12. Hao LT, Pissard S, Van CL, Hanh TD, Goossens M, Kiet TD. Molecular analysis of β-thalassemia in south Vietnam. Hemoglobin. 2001;25(3):305-309. (Pubitemid 32845934)
13. Liao C, Xie XM, Zhong HZ, Zhou JY, Li DZ. Proposed screening criteria for β-thalassemia trait during early pregnancy in southern China. Hemoglobin. 2009;33(6):528-533.
14. Filon D, Oppenheim A, Rachmilewitz EA, Kot R, Ba Truc D. Molecular analysis of β-thalassemia in Vietnam. Hemoglobin 2000;24(2):99-104.
15. Fucharoen S, Fucharoen G, Sriroongrueng W, Laosombat V. Molecular basis of β-thalassemia in Thailand: analysis of β-thalassemia mutations using the polymerase chain reaction. Hum Genet. 1989;84(1):41-46. (Pubitemid 20022422)
16. Fucharoen S, Winichagoon P. Hemoglobinopathies in Southeast Asia: molecular biology and clinical medicine. Hemoglobin. 1997;21(4):299-319. (Pubitemid 27327182)
17. Li C-G, Li C-F, Li Q, Li M. Thalassemia incidence and treatment in China with special reference to Shenzhen City and Guangdong Province. Hemoglobin. 2009;33(5):296-303.