Molecular epidemiological survey of hemoglobinopathies in the wuxi region of jiangsu province, Eastern China

Hemoglobin

Volumn 37, Issue 5, 2013, Pages 454-466

  Lin, Min ^a   Han, Zhi Jun ^b   Wang, Qian ^c   Zheng, Lei ^c   Wang, Yan ^b   Yang, Hui ^a   Huang, Yue ^a   Lin, Fen ^a   Zhan, Xiao Fen ^a   Lin, Chun Ping ^a   Wu, Jiao Ren ^a   Luo, Zhao Yun ^a   Liu, Jing Bo ^b   Yan, Zhi He ^b   Zheng, Shu Yan ^a   Zheng, Jia Kun ^a   Lu, Min ^d   Zhu, Juan Juan ^d   Xie, Long Xu ^d   Yang, Li Ye ^a  

^a affiliated to Southern Medical University   (China)

^b NANJING MEDICAL UNIVERSITY   (China)

^c SOUTHERN MEDICAL UNIVERSITY   (China)

^d Chaozhou Hybribio Limited Corporation   (China)

Author keywords

Hemoglobinopathies; Molecular epidemiological survey; Thalassemia

Indexed keywords

HEMOGLOBIN E; HEMOGLOBIN F; HEMOGLOBIN VARIANT;

AGAR GEL ELECTROPHORESIS; ALPHA THALASSEMIA; ARTICLE; BETA THALASSEMIA; BLOOD CELL COUNT; DNA SEQUENCE; GENOTYPE; HEMOGLOBINOPATHY; HUMAN; MAJOR CLINICAL STUDY; MOLECULAR DIAGNOSIS; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BLOOD CELL COUNT; CHINA; DNA MUTATIONAL ANALYSIS; FEMALE; GEOGRAPHY; HEALTH SURVEYS; HEMOGLOBINOPATHIES; HEMOGLOBINS; HEMOGLOBINS, ABNORMAL; HUMANS; MALE; MOLECULAR EPIDEMIOLOGY; MUTATION; POLYMERASE CHAIN REACTION; THALASSEMIA;

EID: 84883569969     PISSN: 03630269     EISSN: 1532432X     Source Type: Journal    
DOI: 10.3109/03630269.2013.807285     Document Type: Article

References (27)

1. Weatherall DJ. Phenotype-genotype relationships in monogenic disease: Lessons from the thalassaemias. Nat Rev Genet. 2001;2(4):245-255
2. 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
3. Colah R, Gorakshakar A, Nadkarni A. Global burden, distribution and prevention of β-thalassemias and Hemoglobin E disorders. Expert Rev Hematol. 2010;3(1):103-117
4. Thein SL. Genetic modifiers of the β-haemoglobinopathies. Br J Haematol. 2008;141(3):357-366
5. Xu XM, Li ZQ, Liu ZY, Zhong XL, Zhao YZ, Mo QH. Molecular characterization and PCR detection of a deletional HPFH: Application to rapid prenatal diagnosis for compound heterozygotes of this defect with β-thalassemia in a Chinese family. Am J Hematol. 2000;65(3):183-188
6. Taylor SM, Parobek CM, Fairhurst RM. Haemoglobinopathies and the clinical epidemiology of malaria: A systematic review and meta-analysis. Lancet Infect Dis. 2012;12(6):457-468
7. Harteveld CL, Higgs DR. α-Thalassaemia. Orphanet J Rare Dis. 2010;5:13
8. Zeng YT, Huang SZ. Disorders of haemoglobin in China. J Med Genet. 1987;24(10):578-583
9. Lin M, Wang Q, Zheng L, et al. Prevalence and molecular characterization of abnormal hemoglobin in eastern Guangdong of southern China. Clin Genet. 2012;81(2):165-171
10. Zeng Y, Huang S. The studies of hemoglobinopathies and thalassemia in China - The experiences in Shanghai Institute of Medical Genetics. Clin Chim Acta. 2001;313(1-2):107-111
11. Lin M, Zhu JJ, Wang Q, et al. Development and evaluation of a reverse dot blot assay for the simultaneous detection of common α and β thalassemia in Chinese. Blood Cells Mol Dis. 2012;48 (2):86-90
12. Chen W, Zhang X, Shang X, et al. The molecular basis of β-thalassemia intermedia in southern China: Genotypic heterogeneity and phenotypic diversity. BMC Med Genet. 2010;11:31
13. So CC, So AC, Chan AY, Tsang ST, Ma ES, Chan LC. Detection and characterization of β-globin gene cluster deletions in Chinese using multiplex ligation-dependent probe amplification. J Clin Pathol. 2009;62(12):1107-1111
14. Liu Z, Zhong X, Li Z, Xu X. Rapid detection of an HPFH deletion by PCR amplification with three primers bridging the breakpoint. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 1999;16(1):41-43
15. Manca L, Masala B. Disorders of the synthesis of human fetal hemoglobin. IUBMB Life. 2008;60 (2):94-111
16. The collaborative group of hemoglobin screening of Jiangsu Province. The investigative report of hemoglobin variants in Jiangsu province. Jiangsu Med. 1982;8(12):30-31
17. Qin LY, Li Y, Xiang HQ. The population genetic investigation and hemoglobin variants screening in Liangyugang city. J Baotou Med College. 1998;14(3):8-9
18. Du RF, Ed. Hemoglobin. Population Genetics of Chinese, 1st ed. Beijing: Science Publishing House. 2004:202-206
19. Zeng YT, Huang SZ, Yen YK, et al. Hemoglobin Queens (α34(B15) Leu!Arg) found in two Chinese families. Hemoglobin. 1982;6(2):209-211
20. Chen SS, Yang KG, Jia PC, et al. Structural analysis of a case of Hb I in combination with Hb E - A new complex type. Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 1983;5(1):29-34
21. Qin LY. The incidence, distributing and genetic polymorphism of the abnormal hemoglobin in China minority. Bull Med Res. 2003;32(2):12-14
22. Arya V, Kumar R, Yadav RS, Dabadghao P, Agarwal S. Rare hemoglobin variant Hb I Philadelphia in North Indian family. Ann Hematol. 2009;88(9):927-929
23. Torres FR, Ondei LS, Zamaro PJ, et al. Hemoglobin I-Philadelphia [α16(A14)LYS!GLU] heterozygote among blood donors from Brazil. Genet Mol Res. 2006;5(4):713-716
24. Hardison RC, Chui DHK, Giardine B, et al. HbVar: 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).
25. Patrinos GP, Giardine B, Riemer C, et al. Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies. Nucleic Acids Res. 2004;32(Database issue):D537-D541 (http://globin.cse.psu.edu).
26. Craig JE, Barnetson R, Weatherall DJ, Thein SL. Rapid detection of a 13.4-kb deletion causing δβ thalassemia in an Egyptian family by polymerase chain reaction. Blood. 1993;81(3):861-863
27. Henthorn PS, Smithies O, Mager DL. Molecular analysis of deletions in the human β-globin gene cluster: Deletion junctions and locations of breakpoints. Genomics. 1990;6(2):226-237