RT Journal Article
T1 First Case of Hb City of Hope (HBB: c.208G > A) in Andalusia. A Molecular Update of β-Thalassemia in Southwestern Spain (Huelva Province)
A1 Hernández De La Fuente, Candelaria Lucía
A1 Aguado, Sergio
A1 Sánchez Martínez, Luis Javier
A1 Rodríguez, Juan N.
A1 Palma, Antonio
A1 Ropero, Paloma
A1 Calderón Fernández, María Del Rosario
AB Beta-thalassemia, caused by mutations in the β-globin gene, is an important disease for both basic and translational research. This hemoglobinopathy is molecularly and clinically heterogeneous, and its high prevalence in certain geographic areas has been attributed to a combination of evolutionary, environmental, and sociocultural factors. This report provides an update on the genetic dissection of β-thalassemia in western Andalusia (southern Spain) using a population genetics approach. The results were consistent with previous reports and support the idea of a specific substrate for the disorder in southwestern Iberia, with variant IVS I-1 (G > A) being a hallmark of autochthonous people. A single case of the hemoglobin variant Hb City of Hope (CD 69), a rare mutation reported in fewer than fifty individuals worldwide, was detected. Clinical differences associated with the specific β-globin mutation were also explored, with significance observed only for MCV when comparing mean values of IVS II-745 vs. CD 39 and IVS II-745 vs. IVS I-1.
PB Taylor & Francis
SN 0363-0269
YR 2026
FD 2026-03-02
LK https://hdl.handle.net/20.500.14352/133785
UL https://hdl.handle.net/20.500.14352/133785
LA eng
NO Candela L. Hernández, Sergio Aguado, Luis J. Sánchez-Martínez, Juan N. Rodríguez, Antonio Palma, Paloma Ropero & Rosario Calderón. First Case of Hb City of Hope (HBB: c.208G > A) in Andalusia. A Molecular Update of β Thalassemia in Southwestern Spain (Huelva Province). Hemoglobin (in press).
NO This research was supported by Ministerio de Economía, Industria y Competitividad, Gobierno de España (Projects CGL2010-15191 and CGL2014-53985-R, both granted to RC.).
NO Ministerio de Economía y Competitividad (España)
DS Docta Complutense
RD 2 abr 2026