title: Molecular characterization of a new family with alpha-thalassemia-1 (--MA mutation).
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.
authors.affiliation: Hematology Service, Hospital Universitario San Carlos, Madrid, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Villegas
authors.forename: J
authors.initials: J
authors.lastname: Sánchez
authors.forename: D L
authors.initials: DL
authors.lastname: Carreño
authors.forename: P
authors.initials: P
authors.lastname: Ropero
authors.forename: F A
authors.initials: FA
authors.lastname: González
authors.forename: D
authors.initials: D
authors.lastname: Espinós
authors.forename: M A
authors.initials: MA
authors.lastname: Peñalver
authors.forename: M
authors.initials: M
authors.lastname: Lozano
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D005260:Female; D005914:Globins / Q000235:genetics*; D006801:Humans; D008297:Male; D017354:Point Mutation; D017085:alpha-Thalassemia / Q000235:genetics*
chemical_list: D005914:Globins