Hb A <sub>2</sub> -Getafe [δ 132 (H10) Lys > Thr, <i>HBD</i> : c.88C > A]: New Mutation in the δ-Globin Gene in a Spanish Patient
We present the case of a 71-year-old Spanish patient with a low Hb A<sub>2</sub> value by high-performance liquid chromatography (HPLC) and an atypical profile by capillary electrophoresis (CE), suggesting an Hb A<sub>2</sub> structural variant. Molecular biology revealed a non-described mutation in codon 132 of the 3rd exon of the <i>HBD</i> gene. This mutant allele codes for a change of amino acid (lysine to threonine) in position 10 of the helix H of the delta (δ) globin chain, described as <i>HBD</i>: c.398A > C or Hb A<sub>2</sub>-Getafe. Detection of new variants in the δ-globin chain is crucial since these mutations may mask different pathologies, such as beta (β) thalassemia.
Authors
- C. Barros (ORCID: https://orcid.org/0000-0002-2950-3467)
- Paloma Ropero Gradilla
- Renata Moreno (ORCID: https://orcid.org/0000-0001-5125-6995)
- Ramiro Antonio Torrado-Carrión (ORCID: https://orcid.org/0000-0003-2603-2898)
- Lisset Pabón
Institutions
- Horiba (Japan) (JP)
- Hospital Clínico San Carlos (ES)
- Hospital Universitario de Getafe (ES)
Publication Details
- Journal
- Hemoglobin
- Published
- 2025-05-04
- DOI
- https://doi.org/10.1080/03630269.2025.2511984
- Primary Topic
- Hemoglobinopathies and Related Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00