|
1
|
Higgs DR, Engel JD and Stamatoyannopoulos
G: Thalassaemia. Lancet. 379:373–383. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
2
|
Muncie HL Jr and Campbell J: Alpha and
beta thalassemia. Am Fam Physician. 80:339–344. 2009.PubMed/NCBI
|
|
3
|
Cai R, Li L, Liang X, Liu Z, Su L, Li W,
Zhu Q, Mo Q, Pan L, Ouyang H, et al: Prevalence survey and
molecular characterization of alpha and beta thalassemia in Liuzhou
city of Guangxi. Zhonghua Liu Xing Bing Xue Za Zhi. 23:281–285.
2002.(In Chinese). PubMed/NCBI
|
|
4
|
Xu XM, Zhou YQ, Luo GX, Liao C, Zhou M,
Chen PY, Lu JP, Jia SQ, Xiao GF, Shen X, et al: The prevalence and
spectrum of alpha and beta thalassaemia in Guangdong Province:
Implications for the future health burden and population screening.
J Clin Pathol. 57:517–522. 2004. View Article : Google Scholar : PubMed/NCBI
|
|
5
|
Zhang J, Zhu BS, He J, Zeng XH, Su J, Xu
XH, Li SY, Chen H and Zhang YH: The spectrum of a- and
b-thalassemia mutations in Yunnan Province of Southwestern China.
Hemoglobin. 36:464–473. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
6
|
Hu ZH, Liu YL, Zeng ZY, Zhang XL and Zhu
QY: Beta-thalassemia majar caused by compound heterozygosity for
+40 to −43(−AAAC), IVS-2-654 (C to T) and codon 41/42 (−TCTT).
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 25:418–420. 2008.(In Chinese).
PubMed/NCBI
|
|
7
|
Babashah S, Jamali S, Mahdian R, Nosaeid
MH, Karimipoor M, Alimohammadi R, Raeisi M, Maryami F, Masoudifar M
and Zeinali S: Detection of unknown deletions in beta-globin gene
cluster using relative quantitative PCR methods. Eur J Haematol.
83:261–269. 2009. View Article : Google Scholar : PubMed/NCBI
|
|
8
|
Fallah MS, Mahdian R, Aleyasin SA, Jamali
S, Hayat-Nosaeid M, Karimipour M, Raeisi M and Zeinali S:
Development of a quantitative real-time PCR assay for detection of
unknown alpha-globin gene deletions. Blood Cells Mol Dis. 45:58–64.
2010. View Article : Google Scholar : PubMed/NCBI
|
|
9
|
Livak KJ and Schmittgen TD: Analysis of
relative gene expression data using real-time quantitative PCR and
the 2(-Delta Delta C(T)) method. Methods. 25:402–408. 2001.
View Article : Google Scholar : PubMed/NCBI
|
|
10
|
Liu Z, Zhong X, Li Z and 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. 16:41–43. 1999.(In Chinese). PubMed/NCBI
|
|
11
|
Chong SS, Boehm CD, Cutting GR and Higgs
DR: Simplified multiplex-PCR diagnosis of common southeast asian
deletional determinants of alpha-thalassemia. Clin Chem.
46:1692–1695. 2000.PubMed/NCBI
|
|
12
|
Giardine B, Borg J, Viennas E, Pavlidis C,
Moradkhani K, Joly P, Bartsakoulia M, Riemer C, Miller W, Tzimas G,
et al: Updates of the HbVar database of human hemoglobin variants
and thalassemia mutations. Nucleic Acids Res. 42(Database Issue):
D1063–D1069. 2014. View Article : Google Scholar : PubMed/NCBI
|
|
13
|
Carlice-Dos-Reis T, Viana J, Moreira FC,
Cardoso GL, Guerreiro J, Santos S and Ribeiro-Dos-Santos Â:
Investigation of mutations in the HBB gene using the 1,000 genomes
database. PLoS One. 12:e01746372017. View Article : Google Scholar : PubMed/NCBI
|
|
14
|
Long G and Zhang J: Hemoglobin &
Hemoglobinopathies. Guangxi Science & Technology Press;
Guangxi: pp. 233–235. 2003
|
|
15
|
Cao A and Galanello R: Beta-thalassemia.
Genet Med. 12:61–76. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
16
|
Mosca A, Paleari R, Leone D and Ivaldi G:
The relevance of hemoglobin F measurement in the diagnosis of
thalassemias and related hemoglobinopathies. Clin Biochem.
42:1797–1801. 2009. View Article : Google Scholar : PubMed/NCBI
|
|
17
|
Liu G and Sun S: The laboratory diagnosis
of thelassemia: Selection and evaluation of tests and methods. Chin
J Lab Med. 35:385–387. 2012.
|
|
18
|
Bollekens JA and Forget BG: Delta beta
thalassemia and hereditary persistence of fetal hemoglobin. Hematol
Oncol Clin North Am. 5:399–422. 1991.PubMed/NCBI
|
|
19
|
Zhang J, He J, Zeng XH, Ge SJ, Huang Y, Su
J, Ding XM, Yang JQ, Cao YJ, Chen H, et al: Genetic heterogeneity
of the β-globin gene in various geographic populations of Yunnan in
southwestern China. PLoS One. 10:e01229562015. View Article : Google Scholar : PubMed/NCBI
|
|
20
|
Huang SZ, Zeng FY, Ren ZR, Lu ZH, Rodgers
GP, Schechter AN and Zeng YT: RNA transcripts of the
beta-thalassaemia allele IVS-2-654 C->T: A small amount of
normally processed beta-globin mRNA is still produced from the
mutant gene. Br J Haematol. 88:541–546. 1994. View Article : Google Scholar : PubMed/NCBI
|
|
21
|
Changsri K, Akkarapathumwong V, Jamsai D,
Winichagoon P and Fucharoen S: Molecular mechanism of high
hemoglobin F production in Southeast Asian-type hereditary
persistence of fetal hemoglobin. Int J Hematol. 83:229–237. 2006.
View Article : Google Scholar : PubMed/NCBI
|
|
22
|
Zheng W, Liu Y, Chen D, Rong K, Ge Y, Gong
C and Chen H: Complex interaction of Hb Q-Thailand and Hb E with
alpha(0)-thalassemia and hereditary persistence of fetal hemoglobin
in a Chinese family. Ann Hematol. 89:883–888. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
23
|
Xiu X: The molecular basis of the
δβ-thalassemia for HPFH and deletion seen in the Chinese. Chin J
Med Genet. 15:315–317. 1998.
|
|
24
|
Bhardwaj U and McCabe ER: Multiplex-PCR
assay for the deletions causing hereditary persistence of fetal
hemoglobin. Mol Diagn. 9:151–156. 2005. View Article : Google Scholar : PubMed/NCBI
|
|
25
|
Xu XM, Li ZQ, Liu ZY, Zhong XL, Zhao YZ
and Mo QH: Molecular characterization and PCR detection of a
deletional HPFH: Application to rapid prenatal diagnosis for
compound heterozygotes of this defect with beta-thalassemia in a
Chinese family. Am J Hematol. 65:183–188. 2000. View Article : Google Scholar : PubMed/NCBI
|
|
26
|
Smiers FJ, Krishnamurti L and Lucarelli G:
Hematopoietic stem cell transplantation for hemoglobinopathies:
Current practice and emerging trends. Pediatr Clin North Am.
57:181–205. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
27
|
Caocci G, La Nasa G, d'Aloja E, Vacca A,
Piras E, Pintor M, Demontis R and Pisu S: Ethical issues of
unrelated hematopoietic stem cell transplantation in adult
thalassemia patients. BMC Med Ethics. 12:42011. View Article : Google Scholar : PubMed/NCBI
|
|
28
|
Valcárcel D, Sierra J, Wang T, Kan F,
Gupta V, Hale GA, Marks DI, McCarthy PL, Oudshoorn M, Petersdorf
EW, et al: One-antigen mismatched related versus HLA-matched
unrelated donor hematopoietic stem cell transplantation in adults
with acute leukemia: Center for International blood and marrow
transplant research results in the era of molecular HLA typing.
Biol Blood Marrow Transplant. 17:640–648. 2011. View Article : Google Scholar : PubMed/NCBI
|
