Molecular characterization of a new family with alpha-thalassemia-1 (--MA mutation)
A Villegas1, J Sánchez, D L Carreño
1Hematology Service, Hospital Universitario San Carlos, Madrid, Spain.
American Journal of Hematology
|August 1, 1995
Abstract:
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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