Molecular characterization of a new family with α‐Thalassemia‐1 (——MA mutation)
- 1 August 1995
- journal article
- case report
- Published by Wiley in American Journal of Hematology
- Vol. 49 (4) , 294-298
- https://doi.org/10.1002/ajh.2830490407
Abstract
A Spanish family with α‐thalassemia‐1 (α‐Thal‐1), deletion (—MA), is described. In addition to the loss of 22 kb of DNA with a deletion of the α1, α2, α1, α2, and Ψζ1 genes, a triplication of the ζ gene cluster in “cis” is produced. The structure of this triplication is formed by the Ψα1, gene, the interzeta region, and, possibly, the insertion of the Ψα2 fragment.Keywords
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