title: Hb Souli, a 6 bp in-frame deletion on the HBA2 gene (HBA2: c.[41-46delCCTGGG]) leads to α-thalassemia intermedia, when in trans to a single α-globin gene deletion.
abstract: We report the case of a 5-year-old child with clinical and hematological findings consistent with the diagnosis of α-thalassemia intermedia (α-TI). Molecular analysis disclosed the common 3.7 kb deletion in the α-globin gene cluster in trans to a novel in-frame 6 bp deletion in the HBA2 gene. It removes the sequence CCTGGG (or GCCTGG) that normally encodes for alanine (codon 13) and tryptophan (codon 14). Even though several hemoglobin (Hb) variants with mutations affecting codons 13 or 14 have been described, Hb Souli (HBA2: c.[41-46delCCTGGG]) is, to the best of our knowledge, the first variant to be reported where both amino acid residues, α13Ala and α14Trp, are deleted, leading to unstable and rapidly degraded α-globin chains.
authors.affiliation: First Department of Pediatrics, Athens University Medical School , Athens , Greece.
authors.forename: Antonis
authors.initials: A
authors.lastname: Kattamis
authors.forename: Polyxeni
authors.initials: P
authors.lastname: Delaporta
authors.forename: Irene
authors.initials: I
authors.lastname: Fylaktou
authors.forename: Christina
authors.initials: C
authors.lastname: Vrettou
authors.forename: Dimitra
authors.initials: D
authors.lastname: Kyriakopoulou
authors.forename: Alexandra
authors.initials: A
authors.lastname: Stamoulakatou
authors.forename: Ioannis
authors.initials: I
authors.lastname: Papassotiriou
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Kanavakis
authors.forename: Jan
authors.initials: J
authors.lastname: Traeger-Synodinos
mesh_terms: D000328:Adult; D001483:Base Sequence; D002675:Child, Preschool; D005260:Female; D006443:Hemoglobin A2 / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D017384:Sequence Deletion; D055542:alpha-Globins / Q000235:genetics*; D017085:alpha-Thalassemia / Q000097:blood / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; D055542:alpha-Globins; D006443:Hemoglobin A2
keywords: Hb Souli; deletion; α-Thalassemia intermedia (α-TI)