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

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 diseas...

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Bibliographic Details
Published in:European journal of haematology 2010-04, Vol.84 (4), p.354-358
Main Authors: Harteveld, Cornelis L, Oosterhuis, Wytze P, Schoenmakers, Christian H H, Ananta, Hardjawardhama, Kos, Snjezana, Bakker Verweij, Margaretha, van Delft, Peter, Arkesteijn, Sandra G J, Phylipsen, Marion, Giordano, Piero C
Format: Article
Language:English
Subjects:
Adult
alpha-Globins - genetics
alpha-Thalassemia - diagnosis
alpha-Thalassemia - genetics
beta-Globins - genetics
beta-Thalassemia - genetics
Female
Hemoglobins, Abnormal - genetics
Heterozygote
Homozygote
Humans
Middle Aged
Mutation
RNA 3' Polyadenylation Signals - genetics
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Summary: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.
ISSN:1600-0609
DOI:10.1111/j.1600-0609.2009.01380.x