a-Thalassemia trait caused by frameshift mutations in exon 2 of the a2-globin gene: HBA2:c.131delT and HBA2:c.143delA

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a-Thalassemia trait caused by frameshift mutations in exon 2 of the a2-globin gene: HBA2:c.131delT and HBA2:c.143delA

We describe two frameshift mutations associated with an a-thalassemia (a-thal) phenotype, identified in three unrelated individuals investigated for persistent microcytosis. The first mutation, HBA2:c.131delT, is located in codon 43, and the second, HBA2:c.143delA, is located in codon 47. Both are d...

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Bibliographic Details
Main Authors:	Finlayson, J., Ghassemifar, Reza, Holmes, P., Grey, D., Newbound, C., Pell, N., Jennens, M., Greenwood, L., Beilby, J.
Format:	Journal Article
Published:	2012
Online Access:	http://hdl.handle.net/20.500.11937/47879

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