Detection of a rare beta-globin nonsense mutation [codon 59 (AAG-->TAG)] in an Italian family.
In this study we report on the hematological and molecular findings of a family from Central Italy, whose 33-year-old male proband presented with a beta0-thalassemia (thal) trait associated to a relevant Hb F level. The proband and his family (parents and a sister) were investigated by hematological analysis. The two beta-thal carriers of the beta-globin nonsense mutation [codon 59 (AAG-->TAG)] (the proband and his father) showed the hematological picture of a beta0-thal trait: the only hematological difference between the two beta-thal carriers was in the Hb F level (3.3% in the proband and 1% in his father).
Amato
Antonio
A
Associazione Nazionale Microcitemie Italia (ANMI ONLUS), Centro Studi Microcitemie di Roma, Roma, Italia. ibianco@tin.it
Pia Cappabianca
Maria
M
Ponzini
Donatella
D
Di Biagio
Paola
P
Colosimo
Alessia
A
Guida
Valentina
V
Mastropietro
Fabrizio
F
Foglietta
Enrica
E
Grisanti
Paola
P
Rinaldi
Silvana
S
Dallapiccola
Bruno
B
Bianco
Ida
I
D000328:Adult; D000368:Aged; D018389:Codon, Nonsense / Q000235:genetics*; D005260:Female; D005319:Fetal Hemoglobin / Q000235:genetics; D005914:Globins / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA / Q000379:methods; D017086:beta-Thalassemia / Q000097:blood / Q000235:genetics*
D018389:Codon, Nonsense; D005914:Globins; D005319:Fetal Hemoglobin