Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.18/4790
Título: Widening the spectrum of deletions and molecular mechanisms underlying alpha-thalassemia
Autor: Ferrão, José
Silva, Marisa
Gonçalves, Lúcia
Gomes, Susana
Loureiro, Pedro
Coelho, Andreia
Miranda, Armandina
Seuanes, Filomena
Reis, Ana Batalha
Pina, Francisca
Maia, Raquel
Kjollerstrom, Paula
Monteiro, Estela
Lacerda, João F.
Lavinha, João
Gonçalves, João
Faustino, Paula
Palavras-chave: ATMDS
Acquired HbH
Novel Deletions
Doenças Raras
Doenças Genéticas
Hemoglobina H
Data: 8-Set-2017
Editora: Springer Verlag
Citação: Ann Hematol. 2017 Sep 8. doi: 10.1007/s00277-017-3090-y. [Epub ahead of print]
Resumo: Inherited 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.
Peer review: yes
URI: http://hdl.handle.net/10400.18/4790
DOI: 10.1007/s00277-017-3090-y
ISSN: 0939-5555
Versão do Editor: https://link.springer.com/article/10.1007%2Fs00277-017-3090-y
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