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Widening the spectrum of deletions and molecular mechanisms underlying alpha-thalassemia

2017-09-08Artigo científico Acesso restrito
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dc.contributor.authorFerrão, José
dc.contributor.authorSilva, Marisa
dc.contributor.authorGonçalves, Lúcia
dc.contributor.authorGomes, Susana
dc.contributor.authorLoureiro, Pedro
dc.contributor.authorCoelho, Andreia
dc.contributor.authorMiranda, Armandina
dc.contributor.authorSeuanes, Filomena
dc.contributor.authorReis, Ana Batalha
dc.contributor.authorPina, Francisca
dc.contributor.authorMaia, Raquel
dc.contributor.authorKjollerstrom, Paula
dc.contributor.authorMonteiro, Estela
dc.contributor.authorLacerda, João F.
dc.contributor.authorLavinha, João
dc.contributor.authorGonçalves, João
dc.contributor.authorFaustino, Paula
dc.date.accessioned2017-09-15T12:11:34Z
dc.date.available2018-09-01T00:30:11Z
dc.date.issued2017-09-08
dc.description.abstractInherited deletions of α-globin genes and/or their upstream regulatory elements (MCSs) give rise to α-thalassemia, an autosomal recessive microcytic hypochromic anemia. In this study, Multiplex Ligation-dependent Probe Amplification performed with commercial and synthetic engineered probes, Gap-PCR, and DNA sequencing were used to characterize lesions in the subtelomeric region of the short arm of chromosome 16, possibly explaining the α-thalassemia/HbH disease phenotype in ten patients. We have found six different deletions, in heterozygosity, ranging from approximately 3.3 to 323 kb, two of them not previously described. The deletions fall into two categories: one includes deletions which totally remove the α-globin gene cluster, whereas the other includes deletions removing only the distal regulatory elements and keeping the α-globin genes structurally intact. An indel was observed in one patient involving the loss of the MCS-R2 and the insertion of 39 bp originated from a complex rearrangement spanning the deletion breakpoints. Finally, in another case no α-globin gene cluster deletion was found and the patient revealed to be a very unusual case of acquired alpha-thalassemia-myelodysplastic syndrome. This study further illustrates the diversity of genomic lesions and underlying molecular mechanisms leading to α-thalassemia.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationAnn Hematol. 2017 Nov;96(11):1921-1929. doi: 10.1007/s00277-017-3090-y. Epub 2017 Sep 8.pt_PT
dc.identifier.doi10.1007/s00277-017-3090-ypt_PT
dc.identifier.issn0939-5555
dc.identifier.otherESSN: 1432-0584
dc.identifier.urihttp://hdl.handle.net/10400.18/4790
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherSpringer Verlagpt_PT
dc.relation.publisherversionhttps://link.springer.com/article/10.1007%2Fs00277-017-3090-ypt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/pt_PT
dc.subjectATMDSpt_PT
dc.subjectAcquired HbHpt_PT
dc.subjectAlpha-thalassemiapt_PT
dc.subjectMLPApt_PT
dc.subjectNovel Deletionspt_PT
dc.subjectTalassemiapt_PT
dc.subjectDoenças Raraspt_PT
dc.subjectDoenças Genéticaspt_PT
dc.subjectHemoglobinopatiaspt_PT
dc.subjectHemoglobina Hpt_PT
dc.subjectMLPApt_PT
dc.titleWidening the spectrum of deletions and molecular mechanisms underlying alpha-thalassemiapt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage9pt_PT
oaire.citation.startPage1pt_PT
oaire.citation.titleAnnals of Hematologypt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typearticlept_PT

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