Hb St. TRUIDEN [alpha 68(E17)Asn -> His] AND Hb WESTEINDE [alpha 125(H8)Leu -> Gln]: TWO NEW ABNORMALITIES OF THE alpha 2-GLOBIN GENE

Author(s):
Kaufmann, J.O.; Phylipsen, M.; Neven, C.; Huisman, W.; Delft, P. van; Bakker-Verweij, M.; Arkesteijn, S.G.J.; Harteveld, C.L.; Giordano, P.C.
Published
2010
Publication type
Article / Letter to editor

Abstract

We report two new abnormal hemoglobins (Hbs) caused by mutations on the alpha 2 gene. One resulted into an Asn-->His substitution at position 68, the other in a Leu-->Gln substitution at position 125. The first mutation was observed in a 61-year-old North European Belgian male during Hb A(1c) analysis and subsequently in other members of his family. The variant was expressed at a normal level and caused no hematological abnormalities in the carriers. The second was found in a 27-year-old Turkish male living in The Hague, The Netherlands, who presented with microcytic hypochromic parameters without iron deficiency and was also carrier of the common alpha 2 IVS-I (-5 nt) deletion.

alpha Genes Hemoglobin (Hb) variants Anemia alpha-thalassemia variant hemoglobinopathies diagnostics prevention deletions codon-68
Date issued
2010-12-31
Language
English
Is part of
Hemoglobin (2010), Vol. 34, no. 5, p. 439-444
hdl
1887/105965
doi
10.3109/03630269.2010.509185