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

doi:10.1111/j.1600-0609.2009.01380.x

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Article

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

European journal of haematology - 1 Apr 2010

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

Abstract excerpt

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...

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Topics

Adult
Female
Hemoglobins, Abnormal
Heterozygote
Homozygote
Humans

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Middle Aged

Mutation

RNA 3' Polyadenylation Signals

alpha-Globins

alpha-Thalassemia

beta-Globins

beta-Thalassemia

Source

Open in PubMed

Identifiers

PMID: 19912309
DOI: 10.1111/j.1600-0609.2009.01380.x

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