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Hemoglobin
international journal for hemoglobin research
Volume 41, 2017 - Issue 3
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Original Article

Hb H Disease Caused by Multiple Mutations in the Polyadenylation Signal Site and − −SEA/αα

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Pages 189-192 | Received 16 Apr 2017, Accepted 24 Jul 2017, Published online: 27 Sep 2017

References

  • He J, Zeng H, Zhu L, et al. Prevalence and spectrum of thalassaemia in Changsha, Hunan Province, China: discussion of an innovative screening strategy. J Genet. 2017;96(20):327–332.
  • Origa R, Paglietti ME, Sollaino MC, et al. Complexity of the α-globin genotypes identified with thalassemia screening in Sardinia. Blood Cells Mol Dis. 2014;52(1):46–49.
  • Xiong F, Sun M, Zhang X, et al. Molecular epidemiological survey of haemoglobinopathies in the Guangxi Zhuang Autonomous Region of southern China. Clin Genet. 2010;78(2):139–148.
  • Chang JG, Lee LS, Lin CP, et al. Rapid diagnosis of α-thalassemia-1 of Southeast Asia type and hydrops fetalis by polymerase chain reaction. Blood. 1991;78(3):853–854.
  • Lappin S, Cahlik J, Gold B. Robot printing of reverse dot blot arrays for human mutation detection. J Mol Diagn. 2001;3(4):178–188.
  • Li S, Peng Q, Liao S, et al. A reverse dot blot assay for the screening of twenty mutations in four genes associated with NSHL in a Chinese population. PLoS One. 2017;12(5):e0177196. doi: 10.1371/journal.pone.0177196.
  • Tang W, Zhang C, Lu F, et al. Spectrum of α-thalassemia and β-thalassemia mutations in the Guilin Region of southern China. Clin Biochem. 2015;48(16-17):1068–1072.
  • Higgs DR, Engel JD, Stamatoyannopoulos G. Thalassemia. Lancet. 2012;379(9813):373–383.
  • Zhang Q, Fan X, He S, et al. Gene distribution characteristics of deletional α-thalassemia in Guangxi region. Zhong Hua Xue Ye Xue Za Zhi. 2014;35(10):941–943.
  • Yin XL, Wu ZK, He YY, et al. Treatment and complications of thalassemia major in Guangxi, Southern China. Pediatr Blood Cancer. 2011;57(7):1174–1178.
  • Yin XL, Wu ZK, Zhou XY, et al. Co-inherited β-thalassemia trait and Hb H disease: clinical characteristics and interference in diagnosis of thalassemia by high performance liquid chromatography. Int J Lab Hematol. 2012;34(4):427–431.
  • Yüregir GT, Aksoy K, Cürük MA, et al. Hb H disease in a Turkish family resulting from the interaction of a deletional α-thalassaemia-1 and a newly discovered poly A mutation. Br J Haematol. 1992;80(4):527–532.
  • Adekile AD, Azab AF, Al-Sharida SI, et al. Clinical and molecular characteristics of non-transfusion-dependent thalassemia in Kuwait. Hemoglobin. 2015;39(5):320–326.
  • Hadavi V, Jafroodi M, Hafezi-Nejad N, et al. α-Thalassemia mutations in Gilan Province, North Iran. Hemoglobin. 2009;33(3):235–241.
  • Giardine B, Borg J, Viennas E, et al. Updates of the HbVar database of human hemoglobin variants and thalassemia mutations. Nucleic Acids Res. 2014;42(Database issue):D1063–1069. (http://globin.cse.psu/edu).
  • Curinha A, Oliveira Braz S, Pereira-Castro I, et al. Implications of polyadenylation in health and disease. Nucleus. 2014;5(6):508–519.
  • Rund D, Dowling C, Najjar K, et al. Two mutations in the β-globin polyadenylylation signal reveal extended transcripts and new RNA polyadenylylation sites. Proc Natl Acad Sci USA. 1992;89(10):4324–4328.
  • Farashi S, Garous NF, Ashki M, et al. Homozygosity for the AATAAA>AATA– – polyadenylation site mutation on the α2-globin gene causing transfusion-dependent Hb H disease in an Iranian patient: a case report. Hemoglobin. 2015;39(5):355–358.

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