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Hemoglobin
international journal for hemoglobin research
Volume 36, 2012 - Issue 2
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Short Communications

Prenatal Diagnosis of Hemoglobinopathies by Pyrosequencing: A More Sensitive and Rapid Approach to Fetal Genotyping

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Pages 144-150 | Received 06 Sep 2011, Accepted 26 Oct 2011, Published online: 12 Jan 2012

REFERENCES

  • Henderson S, Timbs A, McCarthy J, Incidence of haemoglobinopathies in various populations – the impact of immigration. Clin Biochem. 2009;42(18):1745–1756.
  • Old JM, Traeger-Synodios J, Galanello R, Petrou M, Angastiniotis M, Eds. Best practice recommendations. Prevention of Thalassaemias and Other Haemoglobin Disorders; Volume 2. Thalassaemia International Federation (TIF), Nicosia, Cyprus. 2005:1–16.
  • Old JM, Henderson S. Molecular diagnostics for hemoglobinopathies. Expert Opin Med Diagn. 2010;4(3):225–240.
  • Ahmadian A, Ehn M, Hober S. Pyrosequencing; history, biochemistry and future. Clin Chim Acta. 2006;363(1-2):83–94.
  • Galbiati S, Foglieni B, Travi M, Peptide-nucleic acid-mediated enriched polymerase chain reaction as a key point for non-invasive diagnosis of β-thalassemia. Haematologica. 2008;93(4):610–614.
  • Salk JJ, Sanchez JA, Pierce KE, Direct amplification of single-stranded DNA for pyrosequencing using linear-after-the-exponential (LATE)-PCR. Anal Biochem. 2006;353(1):124–132.
  • Haywood A, Dreau H, Timbs A, Screening for clinically significant non-deletional α thalassemia mutations by pyrosequencing. Ann Hematol. 2010;89(12):1215–1221.
  • Old JM. Hemoglobinopathies: community clues to mutation detection. In: Elles R, Ed. Molecular Diagnosis of Genetic Diseases. Methods in Molecular Medicine. Totowa: Humana Press Inc. 1996:169–183.
  • Old JM, Khan S, Verma I, A multi-center study in order to further define the molecular basis of β-thalassemia in Thailand, Pakistan, Sri Lanka, Mauritius, 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.

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