|
1
|
Adu P, Simpong NL, Kontor K and Ephraim RK: Misleading presentation of haemoglobin electrophoresis data. Ghana Med J. 51:36–38. 2017.PubMed/NCBI View Article : Google Scholar
|
|
2
|
Bain BJ: Haemoglobinopathy diagnosis: Algorithms, lessons and pitfalls. Blood Rev. 25:205–213. 2011.PubMed/NCBI View Article : Google Scholar
|
|
3
|
Edison E, Shaji R, Sankari G, Viswabandhya A, Moses A, George B, Mathews V, Srivastava A and Chandy M: Analysis of β globin mutations in the Indian population: Presence of rare and novel mutations and region wise heterogeneity. Blood. 110:3822. 2007.PubMed/NCBI View Article : Google Scholar
|
|
4
|
Liang HF, Li LJ, Yang H, Zheng XB, Lu M, Ge YY, Lin F, Xie LX and Yang LY: Clinical validation of a single-tube PCR and reverse dot blot assay for detection of common α-thalassaemia and β-thalassaemia in Chinese. J Int Med Res. 50(3000605221078785)2022.PubMed/NCBI View Article : Google Scholar
|
|
5
|
Huang H, Chen M, Chen L, Zhang M, Wang Y, Lin N and Xu L: Prenatal diagnosis of thalassemia in 695 pedigrees from southeastern China: A 10-year follow-up study. J Clin Lab Anal. 35(e23982)2021.PubMed/NCBI View Article : Google Scholar
|
|
6
|
Qin J, He J, Li Y, Liu N, Tao F, Zhang P, Guo W, Qin Q and Zhou W: One-step genotyping of α-thalassaemia by multiplex symmetric PCR melting curve. J Clin Pathol. 76:632–636. 2023.PubMed/NCBI View Article : Google Scholar
|
|
7
|
Gao L, Liu Y, Sun M, Zhao Y, Xie R, He Y, Xu W, Liu J, Lin Y and Lou J: Rapid detection of α-thalassaemia alleles of -(SEA)/, -α(3.7)/ and -α(4.2)/using a dual labelling, self-quenching hybridization probe/melting curve analysis. Mol Cell Probe. 29:438–441. 2015.PubMed/NCBI View Article : Google Scholar
|
|
8
|
Old J and Henderson S: Molecular diagnostics for haemoglobinopathies. Expert Opin Med Diagn. 4:225–240. 2010.
|
|
9
|
Gupta P, Arvinden VR, Thakur P, Bhoyar RC, Saravanakumar V, Gottumukkala NV, Goswami SG, Nafiz M, Iyer AR, Vignesh H, et al: Scalable noninvasive amplicon-based precision sequencing (SNAPseq) for genetic diagnosis and screening of β-thalassemia and sickle cell disease using a next-generation sequencing platform. Front Mol Biosci. 10(1244244)2023.PubMed/NCBI View Article : Google Scholar
|
|
10
|
Mukhopadhyay S: Haemoglobin lepore and beta thalassaemia traits-Prenatal testing by both sequence analysis and MLPA for HBB gene: A case report. IJOGR. 11:112–115. 2024.
|
|
11
|
Haywood A, Dreau H, Timbs A, Schuh A, Old J and Henderson S: Screening for clinically significant non-deletional alpha thalassaemia mutations by pyrosequencing. Ann Hematol. 89:1215–1221. 2010.PubMed/NCBI View Article : Google Scholar
|
|
12
|
Mallik N, Jamwal M, Sharma R, Singh N, Sharma P, Bansal D, Trehan A, Chhabra S and Das R: Ultra-rare Hb Regina (HBB:c.289C>G) with coinherited β-thalassaemia trait: Solving the puzzle for extreme erythrocytosis. J Clin Pathol. 75:791–792. 2022.PubMed/NCBI View Article : Google Scholar
|
|
13
|
Zhao J, Li J, Lai Q and Yu Y: Combined use of gap-PCR and next-generation sequencing improves thalassaemia carrier screening among premarital adults in China. J Clin Pathol. 73:488–492. 2020.PubMed/NCBI View Article : Google Scholar
|
|
14
|
Arishi WA, Alhadrami HA and Zourob M: Techniques for the detection of sickle cell disease: A review. Micromachines (Basel). 12(519)2021.PubMed/NCBI View Article : Google Scholar
|
|
15
|
Huang J, Ding L, Chen J, Chen S, Tian P, Xie J, Huang X and Xin X: Characterization of a novel HBB:c.194dup variant of the β-globin gene combined with six alpha genes. J Int Med Res. 50(3000605221099013)2022.PubMed/NCBI View Article : Google Scholar
|
|
16
|
Ye Y, Niu C, Mao A, Qin L, Zhan J, Chen W, Liu Z, Xie T, Zhang Q, Li J, et al: Haplotype-resolved genotyping and association analysis of 1,020 β-Thalassemia patients by targeted Long-read sequencing. Adv Sci (Weinh). 12(e2410992)2025.PubMed/NCBI View Article : Google Scholar
|
|
17
|
Huang W, Qu S, Qin Q, Yang X, Han W, Lai Y, Chen J, Zhou S, Yang X and Zhou W: Nanopore Third-generation sequencing for comprehensive analysis of hemoglobinopathy variants. Clin Chem. 69:1062–1071. 2023.PubMed/NCBI View Article : Google Scholar
|
|
18
|
Chen X, Luo M, Pan L, Huang Y, Yan Z, Shen K, Mai G, Liang H, Li J, Chen Y and Xiong L: A novel 4.9 Kb deletion at beta-globin gene is identified by the third-generation sequencing: Case report from Baoan, China. Clin Chim Acta. 529:10–16. 2022.PubMed/NCBI View Article : Google Scholar
|
|
19
|
Peng C, Zhang H, Ren J, Chen H, Du Z, Zhao T, Mao A, Xu R, Lu Y, Wang H, et al: Analysis of rare thalassemia genetic variants based on third-generation sequencing. Sci Rep. 12(9907)2022.PubMed/NCBI View Article : Google Scholar
|
|
20
|
Zhuang J, Zhang N, Zheng Y, Jiang Y, Chen Y, Mao A and Chen C: Molecular characterization of similar Hb Lepore Boston-Washington in four Chinese families using third generation sequencing. Sci Rep. 14(9966)2024.PubMed/NCBI View Article : Google Scholar
|
|
21
|
Zhuang J, Chen C, Fu W, Wang Y, Zhuang Q, Lu Y, Xie T, Xu R, Zeng S, Jiang Y, et al: Third-generation sequencing as a new comprehensive technology for identifying rare α- and β-Globin gene variants in thalassemia alleles in the Chinese population. Arch Pathol Lab Med. 147:208–214. 2023.PubMed/NCBI View Article : Google Scholar
|
|
22
|
Tang H, Xiong Y, Tang J, Wang X, Wang Y, Huang L, Wang R and Wang D: Screening and diagnosis of rare thalassemia variants: Is Third-generation sequencing enough? Arch Pathol Lab Med. 149:e1–e10. 2025.PubMed/NCBI View Article : Google Scholar
|
|
23
|
Risoluti R, Colah R and Materazzi S: Editorial: Frontiers in hemoglobinopathies: New insights and methods. Front Mol Biosci. 8(632916)2021.PubMed/NCBI View Article : Google Scholar
|
|
24
|
Ahmed S, Saleem M, Sultana N, Raashid Y, Waqar A, Anwar M, Modell B, Karamat KA and Petrou M: Prenatal diagnosis of beta-thalassaemia in Pakistan: Experience in a Muslim country. Prenatal Diag. 20:378–383. 2000.PubMed/NCBI
|
|
25
|
Collado GA, Reidel S, Alonso de AP, Alvarez F, Arroyo GB, Beneitez D, Biemond B, Boaro M, Cajiao GB, Castellani G, et al: Data driven research through the European RADeep registry and the use of artificial intelligence towards personalized medicine in sickle cell disease. Blood. 144 (Suppl 1)(S1138)2024.
|
|
26
|
Thein SL: Genetic insights into the clinical diversity of beta thalassaemia. Brit J Haematol. 124:264–274. 2004.PubMed/NCBI View Article : Google Scholar
|
|
27
|
Thein SL: Beta-thalassaemia prototype of a single gene disorder with multiple phenotypes. Int J Hematol. 76 (Suppl 2):S96–S104. 2002.PubMed/NCBI View Article : Google Scholar
|
|
28
|
Viprakasit V, Chinchang W, Suwanthol L and Tanphaichitr VS: Common origin of a rare beta-globin initiation codon mutation (ATG->AGG) in Asians. Clin Lab Haematol. 27:409–415. 2005.PubMed/NCBI View Article : Google Scholar
|
|
29
|
Nadkarni A, Sakaguchi T, Gorakshakar A, Phanasgaonkar S, Kiyama R, Colah R and Mohanty D: An interplay of alleviating mutations in the clinical phenotype of beta-thalassaemia intermedia. Clin Lab Haematol. 26:419–422. 2004.PubMed/NCBI View Article : Google Scholar
|
|
30
|
Vinciguerra M, Cassarà F, Cannata M, Renda D, Calvaruso G, Leto F, Passarello C, Maggio A and Giambona A: Phenotypic evaluations of HBB:c.93-23T>C, a nucleotide substitution in the IVS I nt 108 of β-globin gene. J Clin Pathol: Aug 9, 2017 (Epub ahead of print). doi: 10.1136/jclinpath-2017-204651.
|
|
31
|
Thein SL: Genetic modifiers of the beta-haemoglobinopathies. Br J Haematol. 141:357–366. 2008.PubMed/NCBI View Article : Google Scholar
|
|
32
|
Faà V, Meloni A, Moi L, Ibba G, Travi M, Vitucci A, Cao A and Rosatelli MC: Thalassaemia-like carriers not linked to the beta-globin gene cluster. Brit J Haematol. 132:640–650. 2006.PubMed/NCBI View Article : Google Scholar
|
|
33
|
Harteveld CL, Oosterhuis WP, Schoenmakers CH, Ananta H, Kos S, Bakker VM, van DP, Arkesteijn SG, Phylipsen M and Giordano PC: Alpha-thalassaemia masked by beta gene defects and a new polyadenylation site mutation on the alpha2-globin gene. Eur J Haematol. 84:354–358. 2010.PubMed/NCBI View Article : Google Scholar
|
|
34
|
Lin M, Zhu JJ, Wang Q, Xie LX, Lu M, Wang JL, Wang CF, Zhong TY, Zheng L, Pan MC, et al: Development and evaluation of a reverse dot blot assay for the simultaneous detection of common alpha and beta thalassemia in Chinese. Blood cell Mol Dis. 48:86–90. 2012.PubMed/NCBI View Article : Google Scholar
|
|
35
|
Joseph Wing on Tam. 1998. Flow through nucleic acid hybridisation uses thereof and a device thereof. US Patent 5741647. Filed February 16, 1996; issued April 21, 1998.
|
|
36
|
Joseph Wing on Tam. 2000. Flow through nucleic acid hybridisation device. US Patent 6020187. Filed February 23, 1998; issued February 1, 2000.
|
|
37
|
Lin M, Wen YF, Wu JR, Wang Q, Zheng L, Liu GR, Huang Y, Yang H, Lin F, Zhan XF, et al: Hemoglobinopathy: Molecular epidemiological characteristics and health effects on Hakka people in the Meizhou region, southern China. PLoS One. 8(e55024)2013.PubMed/NCBI View Article : Google Scholar
|
|
38
|
Lin M, Wang Q, Zheng L, Huang Y, Lin F, Lin CP and Yang LY: Prevalence and molecular characterization of abnormal hemoglobin in eastern Guangdong of southern China. Clin Genet. 81:165–171. 2012.PubMed/NCBI View Article : Google Scholar
|
|
39
|
Wang WD, Hu F, Zhou DH, Gale RP, Lai YR, Yao HX, Li C, Wu BY, Chen Z, Fang JP, et al: Thalassaemia in China. Blood Rev. 60(101074)2023.PubMed/NCBI View Article : Google Scholar
|
|
40
|
Lv W, Linpeng S, Li Z, Liang D, Jia Z, Meng D, Cram DS, Zhu H, Teng Y, Yin A, et al: Noninvasive prenatal diagnosis for pregnancies at risk for β-thalassaemia: A retrospective study. BJOG. 128:448–457. 2021.PubMed/NCBI View Article : Google Scholar
|
|
41
|
Zhuang J, Jiang Y, Wang Y, Zheng Y, Zhuang Q, Wang J and Zeng S: Molecular analysis of α-thalassemia and β-thalassemia in Quanzhou region Southeast China. J Clin Pathol. 73:278–282. 2020.PubMed/NCBI View Article : Google Scholar
|
|
42
|
Bao X, Qin D, Wang J, Chen J, Yao C, Liang J, Liang K, Wang Y, Wang Y, Du L, et al: Two novel deletion mutations in β-globin gene cause β-thalassemia trait in two Chinese families. Hum Genomics. 17(111)2023.PubMed/NCBI View Article : Google Scholar
|
|
43
|
Li Y, Huang T, Mao T, Zhang X, Liang L and Meng M: Detection of a Hb A2-melbourne (HBD: c.130G>A) combined with β-thalassemia in a Chinese individual. J Clin Lab Anal. 34(e23401)2020.PubMed/NCBI View Article : Google Scholar
|
|
44
|
He S, Wang B, Yi S, Huang Z, Liang L, Peng Z, Song P, Chen B, Chen F and Wei H: Molecular characterisation of Hb Akron [β52 (D3) Asp→Val] combined with thalassaemia in a Chinese family. J Clin Pathol. 76:827–831. 2023.
|
|
45
|
Zhuang J, Zheng Y, Wang Y, Zhuang Q, Jiang Y, Xie Q, Zeng S and Zeng J: Identification of a new β-thalassaemia variant Term CD+32(HBB: c.32A>C) in two Chinese families. J Clin Pathol. 73:593–596. 2020.PubMed/NCBI View Article : Google Scholar
|
|
46
|
Xian J, Wang Y, He J, Li S, He W, Ma X and Li Q: Molecular epidemiology and hematologic characterization of thalassemia in Guangdong province, Southern China. Clin Appl Thromb Hemost. 28(10760296221119807)2022.PubMed/NCBI View Article : Google Scholar
|
|
47
|
Li B, Zhang XZ, Yin AH, Zhao QG, Wu L, Ma YZ, Luo MY and Yu SY: High prevalence of thalassemia in migrant populations in Guangdong Province, China. BMC Public Health. 14(905)2014.PubMed/NCBI View Article : Google Scholar
|
|
48
|
Kalle KI, Lai MI and Md NS: Non-deletional alpha thalassaemia: A review. Orphanet J Rare Dis. 15(166)2020.PubMed/NCBI View Article : Google Scholar
|
|
49
|
Farashi S and Najmabadi H: Diagnostic pitfalls of less well recognized HbH disease. Blood Cell Mol Dis. 55:387–395. 2015.PubMed/NCBI View Article : Google Scholar
|
|
50
|
Yang Z, Cui Q, Zhou W, Qiu L and Han B: Comparison of gene mutation spectrum of thalassemia in different regions of China and Southeast Asia. Mol Genet Genomic Med. 7(e680)2019.PubMed/NCBI View Article : Google Scholar
|
|
51
|
Zhao L, Qing J, Liang Y and Chen Z: A novel compound heterozygosity in Southern China: IVS-II-5 (G > C) and IVS-II-672 (A > C). Hemoglobin. 40:428–430. 2016.PubMed/NCBI View Article : Google Scholar
|
|
52
|
Zhuang J, Zhang N, Wang Y, Zhang H, Zheng Y, Jiang Y, Xie Y and Chen D: Molecular characterization analysis of thalassemia and hemoglobinopathy in quanzhou, Southeast China: A large-scale retrospective study. Front Genet. 12(727233)2021.PubMed/NCBI View Article : Google Scholar
|
|
53
|
Mosca A, Paleari R, Ivaldi G, Galanello R and Giordano PC: . The role of haemoglobin A(2) testing in the diagnosis of thalassaemias and related haemoglobinopathies. J Clin Pathol. 62:13–17. 2009.PubMed/NCBI View Article : Google Scholar
|
|
54
|
Omar S, Hammami MB, Taeib SH, Feki M, Abbes S and Kaabachi N: Minor beta thalassemia masked by a hemoglobin A2 mutant. Tunis Med. 88:678–681. 2010.PubMed/NCBI
|
|
55
|
Colaco S, Colah R, Ghosh K and Nadkarni A: Compromising for carrier detection of beta thalassemia based on measurement of HbA2 levels in unusual cases. Clin Chim Acta. 413:1705–1707. 2012.PubMed/NCBI View Article : Google Scholar
|
|
56
|
De AM, Lacerra G, Sabato V and Carestia C: Beta+45 G -> C: A novel silent beta-thalassaemia mutation, the first in the Kozak sequence. Brit J Haematol. 124:224–231. 2004.PubMed/NCBI View Article : Google Scholar
|
|
57
|
Garner C, Dew TK, Sherwood R, Rees D and Thein SL: Heterocellular hereditary persistence of fetal haemoglobin affects the haematological parameters of beta-thalassaemia trait. Brit J Haematol. 123:353–358. 2003.PubMed/NCBI View Article : Google Scholar
|
|
58
|
Kattamis A, Kwiatkowski JL and Aydinok Y: Thalassaemia. Lancet. 399:2310–2324. 2022.PubMed/NCBI View Article : Google Scholar
|
|
59
|
Yu X, Lin M, Liu C, Liao Z, Wei Y, Liu R and Zhu J: Genetic investigation of haemoglobinopathies in a large cohort of asymptomatic individuals reveals a higher carrier rate for β-thalassaemia in Sichuan Province (Southwestern China). Genes Dis. 8:224–231. 2021.PubMed/NCBI View Article : Google Scholar
|
|
60
|
Chihchuan L, Hainan T, Hweiyuen L, Shangzhi H, Ruiyou L and Bauseng W: Hemoglobin Shuangfeng (alpha 27 (B8) Glu substituting for Lys): A new unstable hemoglobin variant. Hemoglobin. 5:691–700. 1981.PubMed/NCBI View Article : Google Scholar
|
|
61
|
Giambona A, Passarello C, Renda D and Maggio A: The significance of the hemoglobin A(2) value in screening for hemoglobinopathies. Clin Biochem. 42:1786–1796. 2009.PubMed/NCBI View Article : Google Scholar
|
