Article
Haemoglobinopathies that occur with decreased HbA2 levels: a gene mutation set involving the δ gene at a Spanish centre.
Journal of clinical pathology - 1 Jan 2017
Villegas Ana, González Fernando Ataúlfo, Nieto Jorge M, de la Fuente-Gonzalo Félix, Martínez Rafael, Torrejón María Josefa, Ropero Paloma
Abstract excerpt
AIMS: Haemoglobin A2 (HbA2) consists of two globin chains, α and β. Alterations in any of these genes influences the level of HbA2. Here, we present cases of structural Hb variants and thalassaemias which present either alone or together and reduce the level of HbA2 at varying degrees. Furthermore, we present a novel structural mutation in the δ globin gene, called Hb A2-Madrid. METHODS: The levels of HbA2 and...
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