Gene Mutation Spectrum among Alpha-Thalassaemia Patients in Northeast Peninsular Malaysia
Tóm tắt
Từ khóa
Tài liệu tham khảo
Chaibunruang, 2018, Prevalence of thalassemia among newborns: A re-visited after 20 years of a prevention and control program in northeast Thailand, Mediterr. J. Hematol. Infect. Dis., 10, e2018054, 10.4084/mjhid.2018.054
Goh, L.P.W., Chong, E.T.J., and Lee, P.-C. (2020). Prevalence of alpha (α)-thalassemia in Southeast Asia (2010–2020): A meta-analysis involving 83,674 subjects. Int. J. Environ. Res. Public Health, 17.
Shafique, 2021, Thalassemia, a human blood disorder, Braz. J. Biol., 83, e246062, 10.1590/1519-6984.246062
Kwaifa, 2020, Non-deletional alpha thalassaemia: A review, Orphanet J. Rare Dis., 15, 166, 10.1186/s13023-020-01429-1
Karakas, 2015, Evaluation of alpha-thalassemia mutations in cases with hypochromic microcytic anemia: The Istanbul perspective, Turk. J. Hematol., 32, 344, 10.4274/tjh.2014.0204
Eng, 2001, Detection of severe nondeletional α-thalassemia mutations using a single-tube multiplex ARMS assay, Genet. Test., 5, 327, 10.1089/109065701753617471
Groeneger, 2010, A rapid single-tube multiplex polymerase chain reaction assay for the seven most prevalent α-thalassemia deletions and αααanti 3.7 α-globin gene triplication, Hemoglobin, 34, 184, 10.3109/03630261003670259
Ibrahim, 2020, Observational study on the current status of thalassaemia in Malaysia: A report from the Malaysian Thalassaemia Registry, BMJ Open, 10, e037974, 10.1136/bmjopen-2020-037974
Idris, 2020, Optimal mean corpuscular haemoglobin (MCH) cut-off value for differentiating alpha plus and alpha zero thalassaemia in thalassaemia screening, Age (Mean ± SD), 22, 12
Ahmad, 2013, Distribution of alpha thalassaemia gene variants in diverse ethnic populations in Malaysia: Data from the Institute for Medical Research, Int. J. Mol. Sci., 14, 18599, 10.3390/ijms140918599
Teh, L.K., Lim, L.F., Teh, Y.L., George, E., Lee, T., and Lim, L.N. (2020). Interaction of hematological analysis and α-globin genotypes among eligible blood donors. IIUM Med. J. Malays., 19.
Mankhemthong, 2019, Molecular characteristics of thalassemia and hemoglobin variants in prenatal diagnosis program in northern Thailand, Int. J. Hematol., 110, 474, 10.1007/s12185-019-02694-y
Pata, S., Laopajon, W., Pongpaiboon, M., Thongkum, W., Polpong, N., Munkongdee, T., Paiboonsukwong, K., Fucharoen, S., Tayapiwatana, C., and Kasinrerk, W. (2019). Impact of the detection of ζ-globin chains and hemoglobin Bart’s using immunochromatographic strip tests for α0-thalassemia (--SEA) differential diagnosis. PLoS ONE, 14.
Wongprachum, 2016, Molecular heterogeneity of thalassemia among pregnant Laotian women, Acta Haematol., 135, 65, 10.1159/000438739
Munkongdee, 2016, Molecular epidemiology of hemoglobinopathies in Cambodia, Hemoglobin, 40, 163, 10.3109/03630269.2016.1158723
Sanchaisuriya, 2014, Hemoglobin constant spring is markedly high in women of an ethnic minority group in Vietnam: A community-based survey and hematologic features, Blood Cells Mol. Dis., 52, 161, 10.1016/j.bcmd.2013.12.002
Hien, 2010, Large scale screening for haemoglobin disorders in southern Vietnam: Implications for avoidance and management, Br. J. Haematol., 150, 359, 10.1111/j.1365-2141.2010.08237.x
Wichian, 2021, Direct PCR assays without DNA extraction for rapid detection of hemoglobin Constant Spring and Pakse’ genes: Application for carrier screening and prenatal diagnosis, Scand. J. Clin. Lab. Investig., 81, 557, 10.1080/00365513.2021.1972332
Aliza, 2012, Prevalence and disease burden of common alpha thalassemia deletions in Malaysian blood donors: A multi ethnic population, Int. J. Sci. Res., 2, 1
Jomoui, 2020, Molecular spectrum of Hb H disease and characterization of rare deletional α-thalassemia found in Thailand, Scand. J. Clin. Lab. Investig., 80, 528, 10.1080/00365513.2020.1795921
Chao, 2014, Clinical features and molecular analysis of Hb H disease in Taiwan, BioMed Res. Int., 2014, 271070, 10.1155/2014/271070
Farashi, 2018, Molecular basis of α-thalassemia, Blood Cells Mol. Dis., 70, 43, 10.1016/j.bcmd.2017.09.004
Zheng, 2021, Screening of some indicators for alpha-thalassemia in Fujian province of Southern China, Int. J. Gen. Med., 14, 7329, 10.2147/IJGM.S338419
Osman, H.A., Hamid, M.M.A., Ahmad, R.B., Saleem, M., and Abdallah, S.A. (2020). Prevalence of 3.7 and 4.2 deletions in Sudanese patients with red cells hypochromia and microcytosis. BMC Res. Notes, 13.
Brancaleoni, 2016, Laboratory diagnosis of thalassemia, Int. J. Lab. Hematol., 38, 32, 10.1111/ijlh.12527
Ou, 2011, Elevated hemoglobin A2 as a marker for β-thalassemia trait in pregnant women, Tohoku J. Exp. Med., 223, 223, 10.1620/tjem.223.223
Das, 2021, MicroRNA expression patterns in HbE/β-thalassemia patients: The passwords to unlock fetal hemoglobin expression in β-hemoglobinopathies, Blood Cells Mol. Dis., 87, 102523, 10.1016/j.bcmd.2020.102523
Zhan, 2021, Comparison of cord blood hematological parameters among normal, α-thalassemia, and β-thalassemia fetuses between 17 and 38 weeks of gestation, Sci. Rep., 11, 3844, 10.1038/s41598-021-82297-y
Campbell, 2009, Alpha and beta thalassemia, Am. Fam. Physician, 80, 339
Moradi, 2022, Problem of borderline hemoglobin A2 levels in an Iranian population with a high prevalence of α-and β-thalassemia carriers, Egypt. J. Med. Hum. Genet., 23, 61, 10.1186/s43042-022-00279-9
Ozdemir, 2020, Erythrocyte indices as differential diagnostic biomarkers of iron deficiency anemia and thalassemia, J. Pediatr. Hematol. Oncol., 42, 208, 10.1097/MPH.0000000000001597
Lam, 2014, Clinical and haematological features of non-deletional alpha thalassaemia mutations in Singapore, Pathology, 46, S94, 10.1097/01.PAT.0000443666.03931.9e
Areekul, 2012, Prevalence and hematological parameters of thalassemia in Tha Kradarn subdistrict Chachoengsao Province, Thailand, J. Med. Assoc. Thail., 95, S124
Liao, 2010, Detection of Hb Constant Spring by a capillary electrophoresis method, Hemoglobin, 34, 175, 10.3109/03630261003680191
Pornprasert, 2016, Hemoglobin constant spring (Hb CS) missed by HPLC in an Hb E trait pregnancy resulting in Hb H-CS disease in a Thai girl: Utility of capillary electrophoresis, Indian J. Hematol. Blood Transfus., 32, 254, 10.1007/s12288-015-0532-3
Wee, 2009, Molecular characterisation of haemoglobin constant spring and haemoglobin quong sze with a combine-amplification refractory mutation system, Malays. J. Med. Sci., 16, 21
Singh, 2018, Hb Adana (HBA2 or HBA1: C. 179G> A) and alpha thalassemia: Genotype–phenotype correlation, Pediatr. Blood Cancer, 65, e27220, 10.1002/pbc.27220
Hamid, 2022, Genotype-phenotype correlation in patients with deletional and nondeletional mutations of Hb H disease in Southwest of Iran, Sci. Rep., 12, 4856, 10.1038/s41598-022-08986-4
Shamoon, R.P., Yassin, A.K., Polus, R.K., and Ali, M.D. (2020). Genotype-phenotype correlation of HbH disease in northern Iraq. BMC Med. Genet., 21.
Zainal, 2014, [alpha]-Thalassemia with Haemoglobin Adana mutation: Prenatal diagnosis, Malays. J. Pathol., 36, 207
Qadri, 2000, Hemoglobin H disease in the eastern region of Saudi Arabia, Saudi Med. J., 21, 666
Rifai, N. (2017). Tietz Textbook of Clinical Chemistry and Molecular Diagnostics-E-Book, Elsevier Health Sciences.