A novel splice acceptor site mutation of the alpha2-globin gene causing alpha-thalassemia.
A novel nondeletional alpha-thalassemia mutation that affects RNA processing, changing the alpha2 IVS-II-142 splice acceptor consensus sequence from AG to AA, has been detected in an Argentinian patient with Hb H disease and her daughter.
Noguera
N I
NI
Departamento Bioquímica Clínica, Facultad de Ciencias Bioquímicas y Farmacéuticas, Universidad Nacional de Rosario, Argentina.
González
F A
FA
Dávoli
R A
RA
Milani
A C
AC
Villegas
A
A
D000328:Adult; D000368:Aged; D001118:Argentina; D001483:Base Sequence; D002648:Child; D005192:Family Health; D005260:Female; D005914:Globins / Q000235:genetics*; D006403:Hematologic Tests; D006801:Humans; D008297:Male; D010641:Phenotype; D017354:Point Mutation; D022821:RNA Splice Sites / Q000235:genetics*; D017085:alpha-Thalassemia / Q000235:genetics*
D022821:RNA Splice Sites; D005914:Globins