ArticleAmerican journal of blood research2025
Structural and clinical characterization of Hb Móstoles (HBA2:c.176A>G; p.His59Arg): a new unstable alpha-globin variant with thalassemic features.
Article in American journal of blood research, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
We report a novel α-globin gene variant, hemoglobin (Hb) Móstoles, characterized by a single nucleotide substitution in the HBA2 gene [α2 58(E7) His > Arg; HBA2:c.176A>G], associated with a 3.7-kb deletion in the homologous chromosome. This variant was identified in a Moroccan family living in Spain. The proband, a four-year-old girl, presented with microcytosis and hypochromia. The abnormal Hb was maternally inherited and detected in two of the proband's four siblings, while the 3.7-kb deletion was paternally inherited. Hb analysis using high-performance liquid chromatography and capillary electrophoresis revealed an abnormal peak in the Hb S region, with a concentration of approximately 3%. Hematological parameter assessment of the four carriers demonstrated that, despite being a structural hemoglobinopathy, Hb Móstoles is associated with an alpha-thalassemia phenotype and may exacerbate clinical manifestations when coexisting with other
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