Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 34, 2010 - Issue 2
155
Views
12
CrossRef citations to date
0
Altmetric
Original Article

Two New α1-Globin Gene Point Mutations: Hb Nedlands (HBA1:c.86C>T) [α28(B9)Ala→Val] and Hb Queens Park (HBA1:c.98T>A) [α32(B13)Met→Lys]

, , , , , , & show all
Pages 123-126 | Received 30 Oct 2009, Accepted 23 Nov 2009, Published online: 30 Mar 2010

REFERENCES

  • Giordano PC. Prospective and retrospective primary prevention of hemoglobinopathies in multiethnic societies. Clin Biochem. 2009;42(18):1757–1766.
  • Phylipsen M, Amato A, Cappabianca MP, Two new β-thalassemia deletions compromising prenatal diagnosis in an Italian and a Turkish couple seeking prevention. Haematologica. 2009;94(9):1289–1292.
  • Bezerra MA, Araujo AS, Phylipsen M, The deletion of SOX8 is not associated with ATR-16 in an HbH family from Brazil. Br J Haematol. 2008;142(2):324–326.
  • Phylipsen M, Prior J, Lim E, Thalassemia in Western Australia: 11 novel deletions characterized by multiplex ligation-dependent probe amplification. Blood Cells Molec Dis. 2009; in press.
  • Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988;11;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.
  • Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res. 2002;30(12):e57.
  • White SJ, Vink GR, Kriek M, Two-color multiplex ligation-dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostoses. Hum Mutat. 2004;24(1):86–92.
  • Harteveld CL, Voskamp A, Phylipsen M, Nine unknown rearrangements in 16p13.3 and 11p15.4 causing α- and β-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification. J Med Genet. 2005;42(12):922–931.

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.