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

Cornelis L Harteveld1, Wytze P Oosterhuis, Christian H H Schoenmakers

  • 1The Reference Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics (LDGA), Leiden University Medical Center, Leiden.

European Journal of Haematology
|November 17, 2009
PubMed

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.

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