Prevalence and genetic analysis of α-thalassemia and β-thalassemia in Chongqing area of China

Gene

Volumn 532, Issue 1, 2013, Pages 127-131

  Yao, Xiu Yun ^a,b,c   Yu, Jie ^a,b,c   Chen, Shi Ping ^d   Xiao, Jian Wen ^a,b,c   Zheng, Qi Chen ^a,b,c   Liu, Hai Yan ^a,b,c   Zhang, Lei ^d   Xian, Ying ^a,b,c   Zou, Lin ^a  

^a CHONGQING MEDICAL UNIVERSITY   (China)

^b CHONGQING KEY LABORATORY OF PEDIATRICS   (China)

^c Chongqing International Science and Technology Cooperation Center for Child Development and Disorders   (China)

^d BGI SHENZHEN   (China)

Author keywords

Globin gene; Mutation; Prevalence; Thalassemia; Variants

Indexed keywords

HEMOGLOBIN VARIANT;

3' UNTRANSLATED REGION; ALPHA THALASSEMIA; ARTICLE; BETA THALASSEMIA; CHILD; CHILDHOOD DISEASE; CHINA; CHINESE; DISEASE SEVERITY; DNA SEQUENCE; EXON; FEMALE; GENETIC ANALYSIS; GENETIC COUNSELING; GLOBIN GENE; HEMATOLOGICAL PARAMETERS; HUMAN; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; SCHOOL CHILD;

EID: 84885385389     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.09.031     Document Type: Article

References (31)

1. Aguinaga M.P., et al. Molecular diagnosis and characterization of Hb Zurich[β63(E7)His→Arg] carriers in a Kentucky family. Hemoglobin 1998, 22(5-6):509-515.
2. Babashah S., et al. Detection of unknown deletions in beta-globin gene cluster using relative quantitative PCR methods. Eur. J. Haematol. 2009, 83(3):261-269.
3. Cai R., et al. Prevalence survey and molecular characterization of and beta thalassemia in Liuzhou city of Guangxi. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2002, 23(42):81-285.
4. Cao A., Rosate Ui M.C., Galanello R. Control of beta-thalassaemia by carrier screening, genetic counseling and prenatal diagnosis: the Sardinian experience. CIBA Found. Symp. 1996, 197:137-151.
5. Cao A., et al. Screening for thalassemia: a model of success. Obstet. Gynecol. Clin. North. Am. 2002, 29:vi-vii. (305=328).
6. Chong S.S., et al. Simplified multiplex-PCR diagnosis of common Southeast Asian deletional determinants of alpha-thalassemia. Clin. Chem. 2000, 46(10):1692-1695.
7. De Silva S., et al. Thalassemia in Sri Lanka: implications for the future health burden of Asian populations. Sri Lanka Thalassemia Study Group. Lancet 2000, 355:786-791.
8. Fallah M.S., et al. Development of a quantitative real-time PCR assay for detection of unknown alpha-globin gene deletions. Blood Cells Mol. Dis. 2010, 45(1):58-64.
9. Fischel-Ghodsian N., et al. Characterization of two deletions that remove the entire human zeta-alpha globin gene complex (-THAI and -FIL). Br. J. Haematol. 1988, 70(2):233-238.
10. Giordano P.C., Bakker-Verwij M., Harteveld C.L. Frequency of alpha-globin gene triplications and their interaction with beta-thalassemia mutations. Hemoglobin 2009, 33(2):124-131.
11. Harteveld C.L., et al. Segmental duplications involving the α-globin gene cluster are causing β-thalassemia intermedia phenotypes in β-thalassemia heterozygous patients. Blood Cells Mol. Dis. 2008, 40(3):312-316.
12. Higgs D.R., Engel J.D., Stamatoyannopoulos G. Thalassaemia. Lancet 2012, 379(9813):373-383. (28).
13. Huang S.Z., et al. A novel beta-thalassemia mutation: deletion of 4bp (-AAAC) in the 5' transcriptional sequence. Br. J. Haematol. 1991, 78(1):125-126.
14. Ko T.M., et al. Alpha-thalassemia in the four major aboriginal groups in Taiwan. Hum. Genet. 1993, 92(1):79-80.
15. Lau Y.L., et al. Prevalence and genotypes of alpha-and beta-thalassemia carriers in Hong Kong-implications for population screening. N. Engl. J. Med. 1997, 336(18):1298-1301.
16. Li D.Z., et al. A novel mutation of -50 (G>A) in the direct repeat element of the beta-globin gene identified in a patient with severe beta-thalassemia. Ann. Hematol. 2009, 88(11):1149-1150.
17. Modell B., Darlison M. Global epidemiology of haemoglobin disorders and derived service indicators. Bull. World Health Organ. 2008, 86(6):480-487.
18. Moosavi S.F., et al. The carrier frequency of α-globin gene triplication in an Iranian population with normal or borderline hematological parameters. Hemoglobin 2011, 35(4):323-330.
19. Mosca A., et al. New analytical tools and epidemiological data for the identification of HbA2 borderline subjects in the screening for beta-thalassemia. Bioelectrochemistry 2008, 73(2):137-140.
20. National Hemoglobinopathy Cooperative Study Group A survey of hemoglobinopathies in 600,000 peoples from 20 provinces, autonomous regions and municipalities. Chin. J. Med. 1983, 64:382-385.
21. Old J.M. Screening and genetic diagnosis of haemoglobin disorders. Blood Rev. 2003, 17(1):43-53.
22. 2-47 (CD5), aspartic acid yields asparagine. Biochim. Biophys. Acta 1975, 386(2):525-529.
23. Sgourou A., et al. Thalassaemia mutations within the 5' UTR of the human β-globin gene disrupt transcription. Br. J. Haematol. 2004, 124(6):825-835.
24. Virshup D.M., et al. Unique sensitivity of Hb Zürich to oxidative injury by phenazopyridine: reversal of the effects by elevating carboxyhemoglobin levels in vivo and in vitro. Am. J. Hematol. 1983, 14(4):315-324.
25. Wang W., et al. Single-tube multiplex-PCR screen for anti-3.7 and anti-4.2 alpha-globin gene triplications. Clin. Chem. 2003, 49(10):1679-1682.
26. Weatherall D.J. Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemias. Nat. Rev. Genet. 2001, 2:245-255.
27. Weatherall D.J., Clegg J.B. Thalassemia-a global public health problem. Nat. Med. 1996, 2:847-849.
28. Xiong F., et al. Molecular epidemiological survey of haemoglobinopathies in the Guangxi Zhuang Autonomous Region of southern China. Clin. Genet. 2010, 78(2):139-148.
29. Xu X.M., et al. The prevalence and spectrum of α and β thalassemia in Guangdong Province: implications for the future health burden and population screening. J. Clin. Pathol. 2004, 57(5):517-522.
30. Zeng Y.T., Huang S.Z. Disorders of haemoglobin in China. J. Med. Genet. 1987, 24(10):578-583.
31. Zhang J.Z., et al. Reverse dot blot analysis: a rapid prenatal diagnostic approach for b-thalassemia mutations in Chinese. Chin. Sci. Bull. 1994, 39:1059-1062.