Hb L'Aquila [β106(G8)Leu→Val, CTG→GTG]: A Novel Thalassemic Hemoglobin Variant

Hb L'Aquila [β106(G8)Leu→Val, CTG→GTG]: A Novel Thalassemic Hemoglobin Variant

A new β-globin variant at codon 106 (CTG→GTG), and which we named Hb L'Aquila [β106(G8)Leu→Val], was detected by DNA analysis. The proband and her father presented with the features of a mild β+-thalassemia (thal), confirmed by their α β-globin chain biosynthesis ratios.

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Hemoglobin 2007-01, Vol.31 (3), p.375-378
Hauptverfasser: Amato, Antonio, Pia Cappabianca, Maria, Ponzini, Donatella, Rinaldi, Silvana, Di Biagio, Paola, Foglietta, Enrica, Grisanti, Paola, Mastropietro, Fabrizio
Format: Artikel
Sprache:eng
Schlagworte:
Adult
Amino Acid Substitution
beta-Thalassemia - genetics
DNA Mutational Analysis
Family Health
Female
Globins - genetics
Hemoglobin (Hb) variants
Hemoglobins, Abnormal - genetics
Humans
Pedigree
Point Mutation
splicing region
β-Thalassemia (thal)
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
Beschreibung
Zusammenfassung:A new β-globin variant at codon 106 (CTG→GTG), and which we named Hb L'Aquila [β106(G8)Leu→Val], was detected by DNA analysis. The proband and her father presented with the features of a mild β+-thalassemia (thal), confirmed by their α β-globin chain biosynthesis ratios.
ISSN:0363-0269
1532-432X
DOI:10.1080/03630260701462055