Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 32, 2008 - Issue 5
70
Views
8
CrossRef citations to date
0
Altmetric
Short Communications

Polymerase Chain Reaction-Based Search for Two α-Globin Gene Mutations in India

, , , , &
Pages 485-490 | Received 22 Oct 2007, Accepted 06 Mar 2008, Published online: 07 Jul 2009

REFERENCES

  • Higgs DR, Vickers MA, Wilkie AOM, Pretorius I-M, Jarman AP, Weatherall DJ. A review of the molecular genetics of the human α-globin gene cluster. Blood 1989; 73(5)1081–1104
  • Oron-Karni V, Filon D, Shifrin Y, Fried E, Pogrebijsky G, Oppenheim A, Rund D. Diversity of α-globin mutation and clinical presentation of α-thalassemia in Israel. Am J Hematol 2000; 65(3)196–203
  • Hartveld CL, Losekoot M, Haak HL, Heister GA, Giordano PC, Bernini LF. A novel polyadenylation signal in the α2-globin gene causing α-thalassaemia. Br J Haematol 1994; 87(1)139–143
  • Harkness M, Harkness DR, Kutlar F, Kutlar A, Wilson JB, Webber BB, Codrington JF, Huisman THJ. Hb Sun Prairie or α2130(H13)Ala→Proβ2, a new unstable variant occurring in low quantities. Hemoglobin 1990; 14(5)491–497
  • Chan AYY, So CKC, Chan LC. Comparison of the Hb H inclusion test and a PCR test in routine screening for α-thalassemia in Hong Kong. J Clin Pathol 1996; 49(5)411–413
  • Sarkar AA, Mukhopadhyay C, Chandra S, Banerjee S, Das MK, Dasgupta UB. Co-inheritance of the Hb Sun Prairie mutation with a point mutation at 5′-UTR in the eastern Indian population. Br J Haematol 2005; 129(2)282–286
  • Bandyopadhyay A, Bandyopadhyay S, Dutta Chowdhury MD, Dasgupta UB. Major β-globin gene mutations in Eastern India and their associated haplotypes. Hum Hered 1999; 49(4)232–235
  • Sarkar AA, Banerjee S, Chandra S, Ghosh M, Banerjee D, Datta Choudhury M, Das M, Dasgupta UB. A novel 33.3 kb deletion (– –KOL) in the α-globin gene cluster: a brief report on deletional α-thalassaemia in the heterogeneous eastern Indian population. Br J Haematol 2005; 130(3)454–457
  • Bandyopadhyay S, Roychowdhury K, Chandra S, Das M, Dasgupta UB. Variable severity of β-thalassemia patients of Eastern India: effect of α-thalassemia and XmnI polymorphism. Clin Exp Med 2001; 1(3)155–159
  • Treisman R, Orkin SH, Maniatis T. Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes. Nature 1983; 302(5909)591–596
  • Yamamoto K, Yamamoto K, Hattori Y, Yamashiro Y, Hoshitani M, Morishita M, Ohba Y, Katahira H, Karasawa M, Omine M. Two β-thalassemia mutations in Japan: codon 121 (GAA→TAA) and IVS-I-130 (G→C). Hemoglobin 1992; 16(4)295–302
  • Proudfoot NJ, Brownlee GG. 3′ Non-coding region sequences in eukaryotic messenger RNA. Nature 1976; 263(5574)211–214
  • Whitelaw E, Proudfoot N. α-Thalassemia caused by a poly (A) site mutation reveals that transcriptional termination is linked to 5′ end processing in the human α2 globin gene. EMBO J 1986; 5(11)2915–2922
  • Henderson S, Chapple M, Rugless M, Fisher C, Kinsey S, Old J. Haemoglobin H hydrops fetalis syndrome associated with homozygosity for the α2-globin gene polyadenylation signal mutation AATAAA>AATA– –. Br J Haematol 2006; 135(5)742–746
  • Adekile AD, Gu L-H, Baysal E, Haider MZ, L al-Fuzae, Aboobacker KC, A al-Rashied, Huisman THJ. Molecular characterization of α-thalassemia determinants, β-thalassemia alleles, and βS haplotypes among Kuwaiti Arabs. Acta Hematol 1994; 92(4)176–181
  • Giordano PC, Hartveld CL, Bok LA, Delft P, Batelaan D, Beemer FA, Bernini LF. A complex haemoglobinopathy diagnosis in a family with both β0- and α0/+-thalassaemia homozygosity. Eur J Hum Genet 1999; 7(2)163–168
  • Laosombat V, Fucharoen S, Wiriyasateinkul A. Interaction of the α2 polyadenylation signal mutation (AATAAA→AATA– –) and α0-thalassemia (– –SEA), resulting in Hb H disease in a Thai patient. Hemoglobin 2001; 25(4)383–389
  • Prior JF, Lim E, Lingam N, Raven JL, Finlayson J. A moderately severe α-thalassemia condition resulting from a combination of the α2 polyadenylation signal (AATAAA→AATA– –) mutation and a 3.7 kb α gene deletion in an Australian family. Hemoglobin 2007; 31(2)173–177
  • Harteveld CL, van Delft P, Wijermans PW, Kappers-Klunne MC, Weegenaar J, Losekoot M, Giordano PC. A novel 7.9 kb deletion causing α+-thalassaemia in two independent families of Indian origin. Br J Haematol 2003; 120(2)364–366
  • Guida V, Colosimo A, Fichera M, Lombardo T, Rigoli L, Dallapiccola B. Hematologic and molecular characterization of a Sicilian cohort of α thalassemia carriers. Haematologica 2006; 91(3)409–410

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.