Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 32, 2008 - Issue 4
127
Views
18
CrossRef citations to date
0
Altmetric
Original

Detection of β-Thalassemia Mutations Using a Multiplex Amplification Refractory Mutation System Assay

, , &
Pages 403-409 | Received 04 May 2007, Accepted 05 Oct 2007, Published online: 07 Jul 2009

REFERENCES

  • Tienthavorn V, Pathanapongsathorn J, Charoensak S, Sae-Tung R, Charoenkwan P, Sanguansermsri T. Prevalence of thalassemia carriers in Thailand. Thai J Hematol Transf Med 2006; 16(2)307–312
  • Choopayak C, Mirasena S, Poodendaen C, Jiraviriyakul A, Sangarun K, Shimbhu D. Thalassemia mutations in lower northern part of Thailand. Naresuan Univ J 2005; 13(3)19–29
  • Wong P, Thanormrat P, Srithipayawan S, Taytiwat P, Jermnim N, Niyomthom S, Nimnuch N, Sanguansermsri T. Prevalence of thalassemia trait from screening program in pregnant women of Phitsanulok. Thai J Hematol Transf Med 2004; 14(3)181–186
  • Winichagoon P, Fucharoen S, Thonglairoam V, Tanapotiwirut V, Wasi P. β-Thalassemia in Thailand. Ann NY Acad Sci 1990; 612: 31–42
  • Fucharoen S, Winichagoon P. Hemoglobinopathies in Southeast Asia. Hemoglobin 1987; 11(1)65–88
  • Nopparatana C, Saechan V, Pornpatkul M, Panich V, Fukumaki Y. A novel 105 base pair deletion causing β0-thalassemia in members of a Thai family. Am J Hematol 1999; 61(1)1–4
  • Winichagoon P, Fucharoen S, Wilairat P, Chihara K, Fukumaki Y, Wasi P. Identification of five rare mutations including a novel frameshift mutation causing β0-thalassemia in Thai patients with β0-thalassemia/Hemoglobin E disease. Biochim Biophys Acta 1992; 1139(4)280–286
  • Fukumaki Y, Fucharoen S, Fucharoen G, Okamoto N, Ichinose M, Jetsrisuparb A, Sriroongrueng W, Nopparatana C, Laosombat V, Panich V, Winichagoon P, Tanphaichitr VS, Suvatte V, Tuchinda S. Molecular heterogeneity of β-thalassemia in Thailand. Southeast Asian J Trop Med Pub Health 1992; 23(Suppl 2)14–21
  • Fucharoen G, Fuchareon S, Jetsrisuparb A, Fukumaki Y. Eight-base deletion in exon 3 of the β-globin gene produced a novel variant (β Khon Kaen) with an inclusion body β-thalassemia trait. Blood 1991; 78(2)537–539
  • Thein SL, Winichagoon P, Hesketh C, Best S, Fucharoen S, Wasi P, Weatherall DJ. The molecular basis of β-thalassemia in Thailand: application to prenatal diagnosis. Am J Hum Genet 1990; 47(3)369–375
  • Sanguansermsri T, Pape M, Laig M, Hundrieser J, Flatz G. β0-Thalassemia in a Thai family is caused by a 3.4 kb deletion including the entire β-globin gene. Hemoglobin 1990; 14(2)157–168
  • Fucharoen G, Fucharoen S, Jetsrisuparb A, Fukumaki Y. Molecular basis of Hb E-β-thalassemia and the origin of Hb E in northeast Thailand: identification of one novel mutation using amplified DNA from buffy coat specimens. Biochem Biophys Res Commun 1990; 170(2)698–704
  • Nopparatana C, Panich V, Saechan V, Sriroongrueng V, Nopparatana C, Rungjeadpha J, Pornpatkul M, Laosombat V, Fukumaki Y. The spectrum of β-thalassemia mutations in southern Thailand. Southeast Asian J Trop Med Pub Health 1995; 26(Suppl 1)229–234
  • Laosombat V, Fucharoen SP, Panich V, Fucharoen G, Wongchanchailert M, Sriroongrueng W, Nopparatana C, Kenpitak K, Maipang M, Fukumaki Y. Molecular basis of β-thalassemia in the south of Thailand. Am J Hematol 1992; 41(3)194–198
  • Laig M, Sanguansermsri T, Wiangnon S, Hundrieser J, Pape M, Flatz G. The spectrum of β-thalassemia mutations in northern and northeastern Thailand. Hum Genet 1989; 84(1)47–50
  • Sirichotiyakul S, Saetung R, Sanguansermsri T. Analysis of β-thalassemia mutations in northern Thailand using an automated fluorescence DNA sequencing technique. Hemoglobin 2003; 27(2)89–95
  • Old J, Traeger-Synodinos J, Galanello R, Petrou M, Angastiniotis M. Molecular diagnosis. Prevention of Thalassaemia and Other Haemoglobin Disorders. Thalassaemia International Federation Publications, Nicosia 2005; 2: 107–110
  • Old JM, Varawalla NY, Weatherall DJ. Rapid detection and prenatal diagnosis of β-thalassaemia: studies in Indian and Cypriot populations in the UK. Lancet 1990; 336(8719)834–837
  • Old JM, Khan SN, Verma I, Fucharoen S, Kleanthous M, Ioannou P, Kotea N, Fisher C, Riazuddin S, Saxena R, Winichagoon P, Kyriacou K, Al-Quobaili F, Khan B. A multi-center study in order to further define the molecular basis of β-thalassemia in Thailand, Pakistan, Sri Lanka, Mauritus, Syria and India, and to develop a simple molecular diagnostic strategy by amplification refractory mutation system-polymerase chain reaction. Hemoglobin 2001; 25(4)397–407
  • Najmabadi H, Teimoourian S, Khatibi T, Neishabury M, Pourfarzad F, Jalil-Nejad S, Azad M, Oberkanins C, Krugluger W. Amplication refractory mutation system(ARMS) and reverse hybridization in the detection of β-thalassemia mutations. Arch Irn Med 2001; 4(4)165–170
  • Sanguansermsri T, Tanpaiboon P, Wongmaeta S, Chomchuen S, Chamrasratanakorn T. A simple method for the screening of β-thalassemia trait. Thai J Hematol Trans Med 2000; 10(3)17–28
  • Sanguansermsri T, Sangkapreecha C, Steger HF. Hb E screening test. Thai J Hematol Transf Med 1998; 8(2)215–221
  • Walsh PS, Metzger DA, Higuchi R. Chelex 100 as a medium for simple extraction of DNA for PCR-based typing from forensic material. BioTechniques 1991; 10(4)506–513
  • Baig SM, Azhar A, Hassan H, Baig JM, Aslam M, Ud Din MA, Qureshi JA, Zaman T. Prenatal diagnosis of β-thalassemia in Southern Punjab, Pakistan. Prenat Diagn 2006; 26(10)903–905
  • Bhardwaj U, Zhang YH, Lorey F, McCabe LL, McCabe ER. Molecular genetic confirmatory testing from newborn screening samples for the common African-American, Asian Indian, Southeast Asian, and Chinese β-thalassemia mutations. Am J Hematol 2005; 78(4)249–255
  • Tan JA, George E, Tan KL, Chow T, Tan PC, Hassan J, Chia P, Subramanium R, Chandran R, Yap SF. Molecular defects in the β-globin gene identified in different ethnic groups/populations during prenatal diagnosis for β-thalassemia: a Malaysian experience. Clin Exp Med 2004; 4(3)142–147
  • Chan YF, Tan KL, Wong YC, Wee YC, Yap SF, Tan JAMA. The use of the amplification refractory mutation system (ARMS) in the detection of rare β-thalassemia mutations in the Malays and Chinese in Malaysia. Southeast Asian J Trop Med Pub Health 2001; 32(4)872–879
  • Thong MK, Tan JA, Tan KL, Yap SF. Characterization of β-globin gene mutations in Malaysian children: a strategy for the control of β-thalassemia in a developing country. J Trop Pediatr 2005; 51(6)328–333

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.