Article
Phenotype of mutations in the promoter region of the β-globin gene.
Journal of clinical pathology - 1 Oct 2017
Ropero Paloma, Erquiaga Sara, Arrizabalaga Beatriz, Pérez Germán, de la Iglesia Silvia, Torrejón María José, Gil Celia, Elena Cela, Tenorio María, Nieto Jorge M, de la Fuente-Gonzalo Félix, Villegas Ana, González Fernández Fernando-Ataúlfo, Martínez Rafael
Abstract excerpt
BACKGROUND: β+-Thalassaemia is characterised by reduced production of β chains, which decrease can be caused by mutations in the promoter region (CACCC or TATA box), and is classified as mild or silent depending on the extent of β-globin chain reduction. In both cases, homozygotes or compound heterozygotes for these mutations usually have thalassaemia intermedia. Frequently the diagnosis is made in adulthood or...
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