Alpha-thalassemia-1 (--CAL mutation) in a Spanish family.
We have detected a second family (five members affected) with a large (32 kb) deletion involving the alpha 1, alpha 2, psi alpha 1, psi alpha 2, psi zeta 1, and zeta-globin genes. This mutation has been previously described in Calabria, Italy, in a child and his mother and has been named alpha-thalassemia--)AL.
Villegas
A
A
Sevicio de Hematologia, Hospital Universitario San Carlos, Universidad Complutense, Madrid, Spain.
Sanchez
J
J
Gonzalez
F A
FA
Carreño
D L
DL
Ropero
P
P
D000328:Adult; D005260:Female; D017353:Gene Deletion; D005796:Genes; D005914:Globins / Q000235:genetics; D006801:Humans; D009154:Mutation; D013030:Spain; D017085:alpha-Thalassemia / Q000235:genetics*
D005914:Globins