RT Journal Article
T1 Genetic variation patterns of β-thalassemia in western Andalusia (Spain) reveal a structure of specific mutations within the Iberian Peninsula
A1 Sánchez-Martínez, Luis
A1 Rodríguez, Juan
A1 Hernández De La Fuente, Candelaria Lucía
A1 Dugoujon, Jean
A1 Novelletto, Andrea
A1 Ropero, Paloma
A1 Pereira, Luisa
A1 Calderón Fernández, María Del Rosario
AB Background: Analyses of the genomic variation in the western Mediterranean population are being used to reveal its evolutionary history and to understand the molecular basis of particular diseases.Aim: To observe the β-thalassemia mutational spectrum in western Andalusia, Spain, in the context of the Mediterranean. In addition, associations between disease and neutral gene variants within the β-globin gene (HBB) were also evaluated.Subjects and methods: This study included 63 unrelated individuals diagnosed with β-thalassemia. In addition, 97 unrelated, healthy subjects of the same territory were also analysed as proxies of the normal genetic background. Allele associations and population genetic structure analyses were performed using different methodologies.Results: Data have revealed a rather restricted spectrum of β-thalassemia mutations in the analysed sample. Although the detected variants fit well with the Mediterranean pattern, certain singularities support a structure of some specific β-thalassemia alleles. The IVSI-1 (G > A) shows a strong regionalisation. The spatial correlogram revealed a typically narrow wave structure, presumably linked to genetic isolation and genetic drift.Conclusions: The long history of endemic malaria in the study territory, the rather high consanguinity rates among its autochthonous population, and other demographic features have been used here to understand the western Andalusian β-thalassemia molecular portrait.
PB Taylor & Francis
SN 0301-4460
YR 2021
FD 2021
LK https://hdl.handle.net/20.500.14352/100489
UL https://hdl.handle.net/20.500.14352/100489
LA eng
NO Sánchez-Martínez LJ, Hernández CL, Rodríguez JN, Dugoujon JM, Novelletto A, Ropero P, Pereira L, Calderón R. Genetic variation patterns of β-thalassemia in Western Andalusia (Spain) reveal a structure of specific mutations within the Iberian Peninsula. Ann Hum Biol. 2021 Aug;48(5):406-417.
NO Ministerio de Economía y Competitividad (España)
DS Docta Complutense
RD 21 abr 2025