title: Characterization of Hb Calvino (HBB: c.406G > A): a new silent β-globin gene variant found in coexistence with α-thalassemia in a family of African origin.
abstract: We report a new silent β-globin gene variant found in a family from Angola living in the north eastern Italian city of Ferrara. The probands, two young sisters, presented with hematological parameters compatible with a β-thalassemia (β-thal) minor but with normal Hb A₂ levels and normal hemoglobin (Hb) separation on high performance liquid chromatography (HPLC). Molecular analyses revealed a homozygosity for the common -α(3.7) (rightward) deletion and heterozygosity for a novel transition (GCT > ACT) at codon 135 of the β-globin gene, leading to an Ala → Thr single amino acid substitution that was inherited from the healthy father.
authors.affiliation: Department of Clinical and Experimental Medicine, Section of Pediatrics, University of Ferrara , Ferrara , Italy .
authors.forename: Maria
authors.initials: M
authors.lastname: Marsella
authors.forename: Gianluca
authors.initials: G
authors.lastname: Salvagno
authors.forename: Bernadetta
authors.initials: B
authors.lastname: Dolcini
authors.forename: Alessandra
authors.initials: A
authors.lastname: Ferlini
authors.forename: Anna
authors.initials: A
authors.lastname: Ravani
authors.forename: Cornelis L
authors.initials: CL
authors.lastname: Harteveld
authors.forename: Piero C
authors.initials: PC
authors.lastname: Giordano
authors.forename: Caterina
authors.initials: C
authors.lastname: Borgna-Pignatti
mesh_terms: D019943:Amino Acid Substitution; D000810:Angola / Q000208:ethnology; D002675:Child, Preschool; D003062:Codon; D005220:Fathers; D005260:Female; D017353:Gene Deletion; D006455:Hemoglobins, Abnormal / Q000032:analysis / Q000737:chemistry / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007558:Italy; D017354:Point Mutation; D012720:Severity of Illness Index; D035781:Siblings; D017085:alpha-Thalassemia / Q000097:blood / Q000235:genetics* / Q000503:physiopathology; D055544:beta-Globins / Q000032:analysis / Q000737:chemistry / Q000235:genetics*
chemical_list: D003062:Codon; D006455:Hemoglobins, Abnormal; D055544:beta-Globins
keywords: (α-thal); angolan-Mozambican origin; missense mutation; α-Thalassemia; β-globin variant