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Research Articles

Direct PCR assays without DNA extraction for rapid detection of hemoglobin Constant Spring and Pakse' genes: application for carrier screening and prenatal diagnosis

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Pages 557-563 | Received 07 Apr 2021, Accepted 21 Aug 2021, Published online: 15 Sep 2021

References

  • Fucharoen S, Winichagoon P. Haemoglobinopathies in southeast Asia. Indian J Med Res. 2011;134:498–506.
  • Fucharoen S, Winichagoon P, Thonglairuam V. Beta-thalassemia associated with alpha-thalassemia in Thailand. Hemoglobin. 1988;12(5–6):581–592.
  • Tritipsombut J, Sanchaisuriya K, Phollarp P, et al. Micromapping of thalassemia and hemoglobinopathies in diferent regions of northeast Thailand and Vientiane, Laos people's democratic republic. Hemoglobin. 2012;36(1):47–56.
  • Clegg JB, Weatherall DJ, Wiley I. The thalassaemia syndromes. Fourth Edition. Oxford: Blackwell Science Ltd; 2001.
  • Chaibunruang A, Sornkayasit K, Chewasateanchai M, et al. 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. 2018;10(1):e2018054.
  • He S, Zheng C, Meng D, et al. Hb H hydrops fetalis syndrome caused by association of the - -(SEA) deletion and Hb constant spring (HBA2: c.427T > C) Mutation in a Chinese family. Hemoglobin. 2015;39(3):216–219.
  • Fucharoen S, Viprakasit V. Hb H disease: clinical course and disease modifiers. Hematology Am Soc Hematol Educ Program. 2009;2009(1):26–34.
  • Kalle Kwaifa I, Lai MI, Md Noor S. Non-deletional alpha thalassaemia: a review. Orphanet J Rare Dis. 2020;15(1):166.
  • Jomoui W, Tepakhan W, Satthakarn S, et al. Molecular spectrum of Hb H disease and characterization of rare deletional α-thalassemia found in Thailand. Scand J Clin Lab Invest. 2020;80(7):528–535.
  • Taher A, Vichinsky E, Musallam K, et al. Guidelines for the management of non transfusion dependent thalassaemia (NTDT). Weatherall D, ed. Nicosia (Cyprus): Thalassaemia International Federation© 2013 Thalassaemia International Federation; 2013.
  • Komvilaisak P, Jetsrisuparb A, Fucharoen G, et al. Clinical course of homozygous hemoglobin constant spring in pediatric patients. J Pediatr Hematol Oncol. 2018;40(5):409–412.
  • Komvilaisak P, Komvilaisak R, Jetsrisuparb A, et al. Fetal anemia causing hydrops fetalis from an Alpha-Globin variant: homozygous hemoglobin constant spring. J Pediatr Hematol Oncol. 2018;40(5):405–408.
  • Komvilaisak P, Jetsrisuparb A, Fucharoen G, et al. Presentation of compound heterozygous hemoglobin constant spring and hemoglobin pakse in neonates. J Pediatr Hematol Oncol. 2019;41(6):e413–e415.
  • Charoenkwan P, Sirichotiyakul S, Chanprapaph P, et al. Anemia and hydrops in a fetus with homozygous hemoglobin constant spring. J Pediatr Hematol Oncol. 2006;28(12):827–830.
  • Sanchaisuriya K, Fucharoen G, Fucharoen S. Hb paksé [(alpha2) codon 142 (TAA->TAT or Term->Tyr)J in Thai patients with EAbart's disease and Hb H Disease . Hemoglobin. 2002;26(3):227–235.
  • Jiang F, Xu LL, Chen GL, et al. Hematological characteristics of Hb constant spring (HBA2: c.427T > C) carriers in mainland China. Hemoglobin. 2020;44(2):86–88.
  • Hunt DM, Higgs DR, Winichagoon P, et al. Haemoglobin constant spring has an unstable alpha chain messenger RNA. Br J Haematol. 1982;51(3):405–413.
  • Pornprasert S, Saoboontan S, Wiengkum T. 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. 2016;32(Suppl 1):254–257.
  • Wichian P, Yamsri S, Sanchaisuriya K, et al. Whole blood PCR for rapid screening of alpha(0)-Thalassemia. Ann Clin Lab Sci. 2018;48(2):231–235.
  • Fucharoen S, Sanchaisuriya K, Fucharoen G, et al. Interaction of hemoglobin E and several forms of alpha-thalassemia in Cambodian families. Haematologica. 2003;88(10):1092–1098.
  • Charoenwijitkul T, Singha K, Fucharoen G, et al. Molecular characteristics of α+-thalassemia (3.7 kb deletion) in Southeast Asia: Molecular subtypes, haplotypic heterogeneity, multiple founder effects and laboratory diagnostics. Clin Biochem. 2019;71:31–37.
  • Wichian P, Yamsri S, Sanchaisuriya K, et al. Direct amplification of whole blood and amniotic fluid specimens for prenatal and postnatal diagnosis of Hb E-β 0-Thalassemia diseases. Lab Med. 2021;2:lmaa117.
  • O'Riordan S, Hien TT, Miles K, et al. Large scale screening for haemoglobin disorders in Southern Vietnam: implications for avoidance and management. Br J Haematol. 2010;150(3):359–364.
  • Carnley BP, Prior JF, Gilbert A, et al. The prevalence and molecular basis of hemoglobinopathies in Cambodia. Hemoglobin. 2006;30(4):463–470.
  • Yatim NF, Rahim MA, Menon K, et al. Molecular characterization of α- and β-thalassaemia among Malay patients. Int J Mol Sci. 2014;15(5):8835–8845.
  • Jomoui W, Fucharoen G, Sanchaisuriya K, et al. Hemoglobin constant spring among southeast Asian populations: haplotypic heterogeneities and phylogenetic analysis. PLOS One. 2015;10(12):e0145230.
  • Singha K, Srivorakun H, Fucharoen G, et al. Molecular basis of Hb H and AEBart's diseases in the Lao People's Democratic Republic. Int J Lab Hematol. 2020;42(1):23–27.
  • Prayalaw P, Teawtrakul N, Jetsrisuparb A, et al. Phenotype and genotype in a cohort of 312 adult patients with Nontransfusion-Dependent thalassemia in Northeast Thailand. Acta Haematol. 2016;135(1):15–20.
  • Teawtrakul N, Pussadhamma B, Ungprasert P, et al. A risk score for predicting pulmonary hypertension in patients with non-transfusion-dependent thalassemia in northeastern Thailand: the E-SAAN score. Hematology. 2015;20(7):416–421.
  • Viprakasit V, Ekwattanakit S. Clinical classification, screening and diagnosis for thalassemia. Hematol Oncol Clin North Am. 2018;32(2):193–211.
  • Kattamis C, Tzotzos S, Kanavakis E, et al. Correlation of clinical phenotype to genotype in haemoglobin H disease. Lancet. 1988;1(8583):442–444.
  • Traivaree C, Boonyawat B, Monsereenusorn C, et al. Clinical and molecular genetic features of Hb H and AE bart's diseases in Central Thai children. Appl Clin Genet. 2018;11:23–30.
  • Krishnamurti L, Little JA. Homozygous hemoglobin constant spring with normal electrophoresis. A possible cause for under-diagnosis. Ann NY Acad Sci. 1998;850:415–419.
  • Thonglairoam V, Winichagoon P, Fucharoen S, et al. Hemoglobin constant spring in Bangkok: molecular screening by selective enzymatic amplification of the alpha 2-globin gene. Am J Hematol. 1991;38(4):277–280.

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