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.

Maria Marsella, Gianluca Salvagno, Bernadetta Dolcini, Alessandra Ferlini, Anna Ravani, Cornelis L Harteveld, Piero C Giordano, Caterina Borgna-Pignatti

Journal: Hemoglobin 2015;38(5):369-72

PMID: 25222042

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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.

Address: Department of Clinical and Experimental Medicine, Section of Pediatrics, University of Ferrara , Ferrara , Italy .

DOI: 10.3109/03630269.2014.948186

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MeSH Terms: Amino Acid Substitution, Angola, Child, Preschool, Codon, Fathers, Female, Gene Deletion, Hemoglobins, Abnormal, Heterozygote, Homozygote, Humans, Italy, Point Mutation, Severity of Illness Index, Siblings, alpha-Thalassemia, beta-Globins