Journal of clinical pathology · 2017
Phenotype of mutations in the promoter region of the β-globin gene.
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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
Аннотация
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 even in old age. A total of 37 alterations in the promoter region have been described so far.
AIMS: In this report we describe the mutations found in the promoter region of the β-globin gene in a single hospital in Madrid.
METHODS: Between 1998 and 2015, more than 9000 blood samples were analysed for full blood count and underwent haemoglobin electrophoresis and high performance liquid chromatography. Genetic analysis of the β and Gγ-globin genes was carried out by automatic sequencing and, in the case of α genes, by multiplex PCR.
RESULTS: 35 samples showed mutation in the promoter region of the β-globin gene, with a total of six different mutations identified: one in the distal CACCC box, two in the proximal CACCC box, three in the ATA box.
CONCLUSIONS: Any alterations in the proximal CACCC and TATA boxes lead to a moderate decrease in synthesis of the β-globin chain, which has been demonstrated in cases of thalassaemia intermedia that have presented in the second decade of life with a moderate clinical course.
AIMS: In this report we describe the mutations found in the promoter region of the β-globin gene in a single hospital in Madrid.
METHODS: Between 1998 and 2015, more than 9000 blood samples were analysed for full blood count and underwent haemoglobin electrophoresis and high performance liquid chromatography. Genetic analysis of the β and Gγ-globin genes was carried out by automatic sequencing and, in the case of α genes, by multiplex PCR.
RESULTS: 35 samples showed mutation in the promoter region of the β-globin gene, with a total of six different mutations identified: one in the distal CACCC box, two in the proximal CACCC box, three in the ATA box.
CONCLUSIONS: Any alterations in the proximal CACCC and TATA boxes lead to a moderate decrease in synthesis of the β-globin chain, which has been demonstrated in cases of thalassaemia intermedia that have presented in the second decade of life with a moderate clinical course.