alpha-thalassaemia masked by beta gene defects and a new polyadenylation site mutation on the alpha2-globin gene

European Journal of Haematology
Cornelis L HarteveldPiero C Giordano

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 [beta26(B8)Glu-->Lys] in the homozygous state. The second had an unusual Hb H disease caused by compound heterozygosity for two different alpha2 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 [beta6(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.

References

Jan 1, 1988·European Journal of Haematology·S FucharoenP Wasi
Apr 10, 1999·European Journal of Human Genetics : EJHG·P C GiordanoL F Bernini
Jun 3, 2009·International Journal of Laboratory Hematology·P Van DelftP C Giordano

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Citations

Jul 16, 2014·Disease Markers·Kamonlak LeecharoenkiatDuncan R Smith
Feb 14, 2012·European Journal of Haematology·Marion PhylipsenCornelis L Harteveld
May 11, 2021·Biochimica Et Biophysica Acta. Molecular Basis of Disease·Dirk Roos, Martin de Boer

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