Molecular characterization of a new family with alpha-thalassemia-1 (--MA mutation).


A Spanish family with alpha-thalassemia-1 (alpha-Thal-1), deletion (--MA), is described. In addition to the loss of 22 kb of DNA with a deletion of the alpha 1, alpha 2, psi alpha 2, and psi zeta 1 genes, a triplication of the zeta gene cluster in "cis" is produced. The structure of this triplication is formed by the psi zeta 1 gene, the interzeta region, and, possibly, the insertion of the psi alpha 2 fragment.


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@article{Villegas1995MolecularCO, title={Molecular characterization of a new family with alpha-thalassemia-1 (--MA mutation).}, author={Ana Mar{\'i}a Villegas and Juan Sanchez and Dolores L Carre{\~n}o and Paloma Ropero and F Ataulfo Gonz{\'a}lez and D. Espinos and Maria A. Pe{\~n}alver and Marina Lozano}, journal={American journal of hematology}, year={1995}, volume={49 4}, pages={294-8} }