Three Mexican Families with β thalassemia intermedia with different molecular basis

• Autor(a) principal: Torre,Lourdes del Carmen Rizo de la
• Data de Publicação: 2019
• Outros Autores: Díaz,Francisco Javier Perea, Cortés,Bertha Ibarra, López,Víctor Manuel Rentería, López,Josefina Yoaly Sánchez, Anzaldo,Francisco Javier Sánchez, Torres,María Teresa Magaña, Gonnet,Katia, Badens,Catherine, Bonello-Palot,Nathalie
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Genetics and Molecular Biology
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000500104
• topic: Thalassemia intermedia; Mexican population; β globin gene; new mutations; alpha-globin gene duplication

Abstract Beta thalassemia (β-thal) is a frequent monogenic disease, is clinically and molecularly heterogeneous. This study described molecular and laboratory findings for three Mexican patients with β-thal intermedia phenotype and their relatives. Three Mexican families were studied for presenting β-thal intermedia, ARMS-PCR and Gap-PCR were performed to screen for common mutations, Sanger sequencing for rare or new alleles, and MLPA for identifying deletions and or duplications. In all three families we observed, in heterozygote condition, the mutation c.118C > T (p.Gln39*) also known as codon 39(C > T) in the β globin gene (HBB) associated with a novel molecular defect: a new duplication of the alpha globin gene cluster, a new deletion that includes the loss of exon 3 of HBB and finally a novel mutation in the 3’UTR of HBB (HBB: c.*132C > A). We report three Mexican families with beta thalassemia intermedia due to different molecular basis; a new single nucleotide mutation involving the last nucleotide of the β-globin chain transcript; and two possible new DNA rearrangements, an α cluster duplication, and a partial β gene deletion.