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Hemoglobin
international journal for hemoglobin research
Volume 34, 2010 - Issue 5
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Original Article

Hb St. Truiden [α68(E17)Asn→His] and Hb Westeinde [α125(H8)Leu→Gln]: Two New Abnormalities of the α2-Globin Gene

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Pages 439-444 | Received 04 Feb 2010, Accepted 11 May 2010, Published online: 20 Sep 2010

REFERENCES

  • Giordano PC. Prospective and retrospective primary prevention of hemoglobinopathies in multiethnic societies. Clin Biochem. 2009;42(18):1757–1766. Retrieved online 8 July 2009.
  • Giordano PC, Plancke A, Van Meir CA, Carrier diagnostics and prevention of hemoglobinopathies in early pregnancy in The Netherlands: a pilot study. Prenat Diagn. 2006;26(8):719–724.
  • Harteveld CL, Thelen MH, Rutten JJ, Hb Geldrop St. Anna [β94(FG1)Asp→Tyr]: a new hemoglobin variant observed in a diabetic patient. Hemoglobin. 2005;29(2):107–112.
  • Van den Ouweland JM, van Daal H, Klaassen CH, van Aarssen Y, Harteveld CL, Giordano PC. The silent hemoglobin α chain variant Hb Riccarton [α51(CE9)Gly→Ser] may affect Hb A1c determination on the HLC-723 G7 analyzer. Clin Chem Lab Med. 2008;46(6):827–830.
  • Zhu Y, Williams LM. Falsely elevated hemoglobin A1c due to S-β+-thalassemia interference in Bio-Rad Variant II Turbo Hb A1c assay. Clin Chim Acta. 2009;409(1–2):18–20.
  • van Delft P, Lenters E, Bakker-Verweij M, Evaluating five dedicated automatic devices for haemoglobinopathy diagnostics in multi-ethnic populations. Int J Lab Hematol. 2009;31(5):484–495.
  • Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988;16(3):1215.
  • Liu YT, Old JM, Miles K, Fisher CA, Weatherall DJ, Clegg JB. Rapid detection of α-thalassaemia deletions and α-globin gene triplication by multiplex polymerase chain reactions. Br J Haematol. 2000;108(2):295–299.
  • Giordano PC, Maatman RG, Niessen RW, van DP, Harteveld CL. β Thalassemia IVS-I-5 (G→C) heterozygosity masked by the presence of Hb J-Meerut in a Dutch-Indian patient. Haematologica. 2006;91(12, Suppl.):ECR56.
  • Shin MC, Chen CM, Liu SC, Hb Ube-2 in a Taiwanese subject: an A→G substitution at codon 68 of the α2-globin gene. Hemoglobin. 2002;26(1):99–101.
  • Molchanova TP, Pobedimskaya DD, Ye Z, Huisman THJ. Two different mutations in codon 68 are observed in Hb G-Philadelphia heterozygotes. Am J Hematol. 1994;45(4):345–346.
  • Morle F, Jaccoud P, Dorleac E, Motta M, Delaunay J, Godet J. α-Globin gene deletions associated with αA and α G Philadelphia in an Algerian family that includes two Hb G homozygotes. Hum Genet. 1984;65(3):303–307.
  • Masala B, Musino L, Pirastru M, Manca L. The C →G transition in the α2-globin gene of a normal αα-chromosome is responsible for the Hb G-Philadelphia variant in Sardinians. Eur J Haematol. 2004;72(6):437–440.
  • Goossens M, Lee KY, Liebhaber SA, Kan YW. Globin structural mutant α125Leu→Pro is a novel cause of α-thalassaemia. Nature. 1982;296(5860):864–865.
  • Martin G, Villegas A, González FA, A novel mutation of the α2-globin causing α+-thalassemia: Hb Plasencia [α125(H8)Leu→Arg (α2)]. Hemoglobin. 2005;29(2):113–117.

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