Two New alpha 1-Globin Gene Point Mutations: Hb Nedlands (HBA1:c.86C > T) [alpha 28(B9)Ala -> Val] and Hb Queens Park (HBA1:c.98T > A) [alpha 32(B13)Met -> Lys]

Author(s):
Phylipsen, M.; Prior, J.F.; Lim, E.; Lingam, N.; Finlayson, J.; Arkesteijn, S.G.J.; Harteveld, C.L.; Giordano, P.C.
Published
2010
Publication type
Article / Letter to editor

Abstract

We report two new point mutations of the alpha 1-globin gene found in a Greek and a Burmese patient, both living in Western Australia. The patients were initially selected for their microcytic hypochromic parameters as belonging to a group suspected for uncommon (deletion) defects. Gap-polymerase chain reaction (gap-PCR) and multiplex ligation-dependent probe amplification (MLPA) technologies were applied, and in those cases not showing deletions, direct sequencing was performed. We have found 1) HBA1:c.86C > T, Hb Nedlands [alpha 28(B9)Ala -> Val] which, based on the red cell indices and phenotype prediction scores, is presumed to be clinically silent, and 2) HBA1:c.98T > A, Hb Queens Park [alpha 32(B13)Met -> Lys] which seems to be associated with a mild alpha-thalassemia (alpha-thal) phenotype. The phenotype/genotype correlation is briefly described.

dependent probe amplification thalassemia deletions alpha-thalassemia rearrangements prevention
Date issued
2010-12-31
Language
English
Is part of
Hemoglobin (2010), Vol. 34, no. 2, p. 123-126
hdl
1887/110339
doi
10.3109/03630261003679854