Hb L'Aquila [beta106(G8)Leu-->Val, CTG-->GTG]: a novel thalassemic hemoglobin variant.
A new beta-globin variant at codon 106 (CTG-->GTG), and which we named Hb L'Aquila [beta106(G8)Leu-->Val], was detected by DNA analysis. The proband and her father presented with the features of a mild beta(+)-thalassemia (thal), confirmed by their alpha/beta-globin chain biosynthesis ratios.
Amato
Antonio
A
Associazione Nazionale Microcitemie Italia (ANMI ONLUS), Centro Studi Microcitemie di Roma, Roma, Italia. microcitemieroma@blod.info
Cappabianca
Maria Pia
MP
Ponzini
Donatella
D
Rinaldi
Silvana
S
Biagio
Paola Di
PD
Foglietta
Enrica
E
Grisanti
Paola
P
Mastropietro
Fabrizio
F
D000328:Adult; D019943:Amino Acid Substitution; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D005914:Globins / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D010375:Pedigree; D017354:Point Mutation; D017086:beta-Thalassemia / Q000235:genetics*
D006455:Hemoglobins, Abnormal; C523162:hemoglobin L'Aquila; D005914:Globins