title: The first case of Hb G-Honolulu [α30(B11)Glu→Gln (GAG>CAG); HBA2:c.91G>A] observed in association with Hb S [β6(A3)Glu→Val, GAG>GTG] in a healthy Italian child.
abstract: We report the first observation of Hb G-Honolulu [α30(B11)Glu→Gln (GAG>CAG); HBA2:c.91G>A] in a Caucasian family and the first case of this variant to be found in association with Hb S [β6(A3)Glu→Val, GAG>GTG]. The proband was a healthy 4-year-old Italian boy. His chromatographic hemoglobin (Hb) pattern showed an abnormal peak having the typical retention time of Hb S (25.6% ), a second abnormal peak eluted soon after (13.6%) and a third minor peak eluted at the end of the run (6.5%). Identification of Hb variants were performed by peptide mapping using liquid chromatography-electrospray ionization-tandem mass spectrometry (LC-ESI-MS/MS). Two abnormal peptides at m/z 765.1 and 922 were found, corresponding to the αT-4 and βT-1 peptides characteristic for Hb G-Honolulu and Hb S, respectively. The third minor abnormal peak presumably corresponded to the hybrid molecule (α(G-Honolulu)/β(S)). The concomitant presence of Hb G-Honolulu and Hb S does not seem to produce any relevant clinical manifestation.
authors.affiliation: Dipartimento di Scienze e Tecnologie Biomediche, Università degli Studi di Milano, Milano, Italia. renata.paleari@unimi.it
authors.forename: Renata
authors.initials: R
authors.lastname: Paleari
authors.forename: Donatella
authors.initials: D
authors.lastname: Caruso
authors.forename: Flavio
authors.initials: F
authors.lastname: Giavarini
authors.forename: Carlo
authors.initials: C
authors.lastname: Colzani
authors.forename: Pietro
authors.initials: P
authors.lastname: Brunati
authors.forename: Andrea
authors.initials: A
authors.lastname: Mosca
mesh_terms: D002648:Child; D002675:Child, Preschool; D002851:Chromatography, High Pressure Liquid; D006443:Hemoglobin A2 / Q000032:analysis / Q000235:genetics*; D006451:Hemoglobin, Sickle / Q000032:analysis / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000032:analysis / Q000235:genetics*; D006801:Humans; D007558:Italy; D008297:Male; D009154:Mutation; D021241:Spectrometry, Mass, Electrospray Ionization
chemical_list: D006451:Hemoglobin, Sickle; D006455:Hemoglobins, Abnormal; C043216:hemoglobin Chinese; D006443:Hemoglobin A2