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Scandinavian Journal of Clinical and Laboratory Investigation Volume 80, 2020 - Issue 7
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Original Articles

Molecular spectrum of Hb H disease and characterization of rare deletional α-thalassemia found in Thailand

Wittaya Jomouia Department of Pathology, Maha Chakri Sirindhorn Medical Center, Faculty of Medicine, Srinakharinwirot University, Nakhon Nayok, ThailandORCID Iconhttps://orcid.org/0000-0002-6035-3006View further author information
ORCID Icon,
Wanicha Tepakhanb Department of Pathology, Faculty of Medicine, Prince of Songkla University, Songkhla, ThailandView further author information
,
Surada Satthakarnc Department of Medical Technology, School of Allied Health Sciences, University of Phayao, Phayao, ThailandView further author information
&
Sitthichai Panyasaic Department of Medical Technology, School of Allied Health Sciences, University of Phayao, Phayao, ThailandCorrespondence[email protected]
ORCID Iconhttps://orcid.org/0000-0002-7589-3849View further author information
ORCID Icon
Pages 528-535 | Received 01 May 2020, Accepted 12 Jul 2020, Published online: 29 Jul 2020

References

  • Panich V, Pornpatkul M, Sriroongrueng W. The problem of thalassemia in Thailand. Southeast Asian J Trop Med Public Health. 1992;23:1–6.
  • Higgs DR, Vickers MA, Wilkie AO, et al. A review of the molecular genetics of the human alpha-globin gene cluster. Blood. 1989;73(5):1081–1104.
  • Weatherall DJ. Pathophysiology of thalassemia. Baillieres Clin Haematol. 1998;11(1):127–146.
  • Chui D. Alpha-thalassemia: Hb H disease and Hb Barts hydrops fetalis. Ann N Y Acad Sci. 2005;1054:25–32.
  • Zhao P, Wu H, Zhong Z, et al. Molecular prenatal diagnosis of alpha and beta thalassemia in pregnant Hakka women in southern China. J Clin Lab Anal. 2018;32(3):e22306.
  • Fucharoen S, Viprakasit V. Hb H disease: clinical course and disease modifiers. Hematol Am Soc Hematol Educ Program. 2009;2009(1):26–34.
  • Nittayaboon K, Nopparatana C. Molecular characterization of Hb H disease in southern Thailand. Int J Hematol. 2018;108(4):384–389.
  • Lie-Injo LE. Alpha-chain thalassemia and hydrops fetalis in Malaya: report of five cases. Blood. 1962; 20:581–590.
  • Li DZ, Yang YD. Invasive prenatal diagnosis of fetal thalassemia. Best Pract Res Clin Obstet Gynaecol. 2017; 39:41–52.
  • Wasi P, Pootrakul S, Pootrakul P, et al. Thalassemia in Thailand. Ann N Y Acad Sci. 1980;344:352–363.
  • Chaibunruang A, Prommetta S, Yamsri S, et al. Molecular and hematological studies in a large cohort of α(0)-thalassemia in northeast Thailand: data from a single referral center . Blood Cells Mol Dis. 2013;51(2):89–93.
  • 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.
  • Harteveld C, Voskamp A, Phylipsen M, et al. Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification. J Med Genet. 2005;42(12):922–931.
  • Fucharoen G, Fucharoen S. Rapid and simultaneous non-radioactive method for detecting alpha-thalassemia 1 (SEA type) and Hb Constant Spring genes. Eur J Haematol. 1994;53(3):186–187.
  • Fucharoen S, Fucharoen G, Fukumaki Y. Simple non-radioactive method for detecting haemoglobin Constant Spring gene. Lancet. 1990;335(8704):1527.
  • 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.
  • Panyasai S, Sringam P, Fucharoen G, et al. A simplified screening for alpha-thalassemia 1 (SEA type) using a combination of a modified osmotic fragility test and a direct PCR on whole blood cell lysates. Acta Haematol. 2002;108(2):74–78.
  • Shaji RV, Eunice SE, Baidya S, et al. Determination of the breakpoint and molecular diagnosis of a common alpha-thalassaemia-1 deletion in the Indian population. Br J Haematol. 2003;123(5):942–947.
  • Chaibunruang A, Karnpean R, Fucharoen G, et al. Genetic heterogeneity of hemoglobin AEBart's disease: a large cohort data from a single referral center in northeast Thailand. Blood Cells Mol Dis. 2014;52(4):176–180.
  • Tan AS, Quah TC, Low PS, et al. A rapid and reliable 7-deletion multiplex polymerase chain reaction assay for alpha-thalassemia. Blood. 2001;98(1):250–251.
  • Vandenplas S, Higgs DR, Nicholls RD, et al. Characterization of a new alpha zero thalassaemia defect in the South African population. Br J Haematol. 1987;66(4):539–542.
  • Chong SS, Boehm CD, Cutting GR, et al. Simplified multiplex-PCR diagnosis of common southeast asian deletional determinants of alpha-thalassemia. Clin Chem. 2000;46(10):1692–1695.
  • Sroymora S, Jindadamrongwech S, Butthep P, et al. A rare Hb H disease due to the - -(SEA) and 16.6 kb α-thalassemia-2 deletions. Hemoglobin. 2012;36(2):200–204.
  • Yang Y, Lou JW, Liu YH, et al. Screening and diagnosis of Hb Quong Sze [HBA2: c.377T > C (or HBA1)] in a prenatal control program for thalassemia. Hemoglobin. 2014;38(3):158–160.

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