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

Hemoglobin. 2014;38(5):369-72. doi: 10.3109/03630269.2014.948186. Epub 2014 Sep 15.


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.

Keywords: (α-thal); angolan-Mozambican origin; missense mutation; α-Thalassemia; β-globin variant.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Substitution
  • Angola / ethnology
  • Child, Preschool
  • Codon
  • Fathers
  • Female
  • Gene Deletion
  • Hemoglobins, Abnormal / analysis
  • Hemoglobins, Abnormal / chemistry
  • Hemoglobins, Abnormal / genetics*
  • Heterozygote
  • Homozygote
  • Humans
  • Italy
  • Point Mutation*
  • Severity of Illness Index
  • Siblings
  • alpha-Thalassemia / blood
  • alpha-Thalassemia / genetics*
  • alpha-Thalassemia / physiopathology
  • beta-Globins / analysis
  • beta-Globins / chemistry
  • beta-Globins / genetics*


  • Codon
  • Hemoglobins, Abnormal
  • beta-Globins