title: First detection of Hb Taybe [α38(C3) or α39(C4) Thr→0 (α1)] in an Italian child.
abstract: Hb Taybe [α38(C3) or α39(C4) Thr→0 (α1)] is an unstable hemoglobin (Hb) variant caused by a deletion of a threonine residue at codon 39 of the α1-globin chain. Usually asymptomatic or with minimal hematological abnormalities in the heterozygous state, Hb Taybe becomes clinically evident in compound heterozygosity with α-thalassemia (α-thal) or in homozygous patients. To date, Hb Taybe has been described in Israeli-Arab and Greek individuals. We report, for the first time, a patient with chronic hemolytic anemia due to the presence of Hb Taybe in trans to the α2 initiation codon mutation ATG>ACG in an Italian child. Hb Taybe was not evident at Hb analysis with cellulose acetate electrophoresis and high performance liquid chromatography (HPLC). Globin biosynthetic studies revealed an α/β-globin ratio in the range of β-thal trait. Consequently, an investigation of the α- and β-globin genes was requested in order to avoid missing any rare globin chain variant and to offer accurate genetic counseling.
authors.affiliation: Clinica Pediatrica 2°, Dipartimento di Scienze Biomediche e Biotecnologie, Università di Cagliari, Ospedale Regionale Microcitemie, ASL 8 Cagliari, Italy.
authors.forename: Maria Elisabetta
authors.initials: ME
authors.lastname: Paglietti
authors.forename: Maria Carla
authors.initials: MC
authors.lastname: Sollaino
authors.forename: Daniela
authors.initials: D
authors.lastname: Loi
authors.forename: Susanna
authors.initials: S
authors.lastname: Barella
authors.forename: Maria Franca
authors.initials: MF
authors.lastname: Desogus
authors.forename: Renzo
authors.initials: R
authors.lastname: Galanello
mesh_terms: D000743:Anemia, Hemolytic / Q000235:genetics / Q000473:pathology; D001483:Base Sequence; D002675:Child, Preschool; D002908:Chronic Disease; D018387:Codon, Initiator / Q000235:genetics; D004252:DNA Mutational Analysis; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D007558:Italy; D008297:Male; D009154:Mutation; D017384:Sequence Deletion; D013912:Threonine / Q000235:genetics*; D055542:alpha-Globins / Q000235:genetics*
chemical_list: D018387:Codon, Initiator; D006455:Hemoglobins, Abnormal; D055542:alpha-Globins; C112848:hemoglobin Taybe; D013912:Threonine