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Hemoglobin
international journal for hemoglobin research
Volume 35, 2011 - Issue 2
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Short Communication

Hb Lynwood [α107(G14) (–T) (α2) HBA2:c.323delT)] in Conjunction with the α3.7 Deletion Produces a Moderately Severe α-Thalassemia Phenotype

Jill Finlayson Department of Haematology, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, Perth, WA, Australia; School of Pathology and Laboratory Medicine, University of Western Australia, Nedlands, Perth, WA, AustraliaCorrespondence[email protected]
,
Reza Ghassemifar Department of Haematology, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, Perth, WA, Australia; School of Pathology and Laboratory Medicine, University of Western Australia, Nedlands, Perth, WA, Australia
,
Paula Holmes Department of Haematology, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, Perth, WA, Australia
,
Dianne Grey Department of Haematology, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, Perth, WA, Australia
,
Christopher Newbound Department of Diagnostic Molecular Genetics, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, Perth, WA, Australia
,
Nicole Pell Department of Diagnostic Molecular Genetics, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, Perth, WA, Australia
,
Michelle Jennens Department of Diagnostic Molecular Genetics, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, Perth, WA, Australia
,
Claire Macaulay Department of Diagnostic Molecular Genetics, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, Perth, WA, Australia
,
Laura Greenwood Department of Diagnostic Molecular Genetics, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, Perth, WA, Australia
&
John Beilby Department of Diagnostic Molecular Genetics, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, Perth, WA, Australia; School of Pathology and Laboratory Medicine, University of Western Australia, Nedlands, Perth, WA, Australia
 show all
Pages 142-146 | Received 13 Dec 2010, Accepted 07 Jan 2011, Published online: 21 Mar 2011

REFERENCES

  • Tan AS, Quah TC, Low PS, Chong SS. A rapid and reliable 7-deletion multiplex polymerase chain reaction assay for α-thalassemia. Blood. 2001;98(1): 250–251.
  • Harteveld C, Versteegh F, Kok P, Hb Bleuland [α108(G15)Thr→Asn, ACC>AAC (α2)]: a new abnormal hemoglobin associated with a mild α-thalassemia phenotype. Hemoglobin. 2006;30(3):349–354.
  • Dode C, Rochette J, Krishnamoorthy R. Locus assignment of human α globin mutations by selective amplification and direct sequencing. B J Haematol. 1990;76(2):275–281.
  • Bhuvanagiri M, Schlitter AM, Hentze MW, Kulozik AE. NMD: RNA biology meets human genetic medicine. Biochem J. 2010;430(3):365–377.
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  • Feng L, Gell DA, Zhou S, Molecular mechanism of AHSP-mediated stabilization of α-hemoglobin. Cell. 2004;119(5):629–40.
  • Liebhaber SA, Coleman MB, Adams JG, 3rd, Cash FE, Steinberg MH. Molecular basis for nondeletion α-thalassemia in American blacks. α2116GAG>UAG. J Clin Invest. 1987;80(1):154–159.
  • Wajcman H, Traeger-Synodinos J, Papassotiriou I, Unstable and thalassemic α chain hemoglobin variants: a cause of Hb H disease and thalassemia intermedia. Hemoglobin. 2008;32(4):327–349.

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