alpha-thalassaemia masked by beta gene defects and a new polyadenylation site mutation on the alpha 2-globin gene

Author(s):
Harteveld, C.L.; Oosterhuis, W.P.; Schoenmakers, C.H.H.; Ananta, H.; Kos, S.; Verweij, M.B.; Delft, P. van; Arkesteijn, S.G.J.; Phylipsen, M.; Giordano, P.C.
Published
2010
Publication type
Article / Letter to editor

Abstract

We report three examples of chronic anaemia involving complex combinations of alpha- and beta-globin gene defects. The first case had a potential Hb H disease caused by the classic SEA/RW deletions masked by Hb E [beta 26(B8)Glu -> 4Lys] in the homozygous state. The second had an unusual Hb H disease caused by compound heterozygosity for two different alpha 2 polyadenylation site mutations masked by a beta-thalassaemia heterozygosity. The third had an intermediate alpha-thalassaemia with considerable anaemia caused by an as yet unknown polyadenylation site (AATAAA>AATAAC) mutation in combination with a common RW deletion masked by a common Hb C [beta 6(A3)Glu -> Lys] heterozygosity. Diagnostic methods, genotype/phenotype correlations and the chance of overlooking these combinations during risk assessment in a multiethnic society are discussed.

alpha-thalassaemia beta-thalassaemia globin genes polyadenylation site mutation hb-h-disease globin gene diagnosis deletions chain homozygosity family
Date issued
2010-04-30
Language
English
Is part of
European Journal of Haematology (2010), Vol. 84, no. 4, p. 354-358
hdl
1887/117662
doi
10.1111/j.1600-0609.2009.01380.x