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.
Villegas
A
A
Hematology Service, Hospital Universitario San Carlos, Madrid, Spain.
Sánchez
J
J
Carreño
D L
DL
Ropero
P
P
González
F A
FA
Espinós
D
D
Peñalver
M A
MA
Lozano
M
M
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*
D005914:Globins