IthaID: 3557

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 43 TTC>CTC [Phe>Leu] HGVS Name: HBA1:c.130T>C
Hb Name: Hb Vanvitelli Protein Info: N/A

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: Detected in a 14-year-old female presenting with haemolytic anaemia and hepatosplenomegaly. Co-inherited with the deletion -α3.7. Father was carrier for the variant, while none of her two siblings displayed any mutation in the α-globin genes. Asymptomatic in the heterozygous state with mild reticulocytosis and normal Hb value. The variant was characterized by HPLC and mass spectroscopy. Laboratory tests confirmed low oxygen saturation (SpO2) at the pulse oximetry (86-88%). The CD43 Phe residue is found at the CD1 helical region in the heme pocket and is critical in maintaining the heme in the proper position for interaction with globin chains.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: Hyperunstable
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]


Chromosome: 16
Locus: NG_000006.1
Locus Location: 37826
Size: 1 bp
Located at: α1
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Italian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Publications / Origin

  1. Casale M, Cozzolino F, Scianguetta S, Pucci P, Monaco V, Sanchez G, Santoro C, Rubino R, Cannata M, Perrotta S, Hb Vanvitelli: A new unstable α-globin chain variant causes undiagnosed chronic haemolytic anaemia when co-inherited with deletion - α., Clin. Biochem., 74(0), 80-85, 2019
Created on 2020-01-17 09:25:06, Last reviewed on (Show full history)

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