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Abstract
In Uruguay, α-thalassemia (α-thal) mutations were introduced predominantly by Mediterranean European immigrant populations and by slave trade of African populations. A patient with anemia with hypochromia and microcytosis, refractory to iron treatment and with normal hemoglobin (Hb) electrophoresis was analyzed for α-thal mutations by multiplex gap-polymerase chain reaction (gap-PCR), automated sequencing and multiplex ligation-dependent probe amplification (MLPA) analyses. Agarose gel electrophoresis of the multiplex gap-PCR showed a band of unexpected size (approximately 700 bp) in the samples from the proband and mother. Automated sequencing of the amplified fragment showed the presence of the –(α)5.2 deletion (NG_000006.1: g.32867_38062del5196) [an α-thal-1 deletion of 5196 nucleotides (nts)]. The MLPA analysis of the proband’s sample also showed the presence of the –(α)5.2 deletion in heterozygous state. We report here the presence of the –(α)5.2 deletion, for the first time in the Americas, in a Uruguayan family with Italian ancestry, detected with a previously described multiplex gap-PCR.
Acknowledgements
We thank to Maria José Benítez and Teresa Armua-Fernandez, CENUR Litoral Norte-sede Salto, Universidad de la República, Salto, Uruguay, for constructive comments about the manuscript.
Declaration of interest
The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.
This study received financial support from Comisión Coordinadora del Interior (CCI) (2015), Uruguay, Coordenação de Aperfeiçoamento de Pessoal de Nivel Superior and Universidad de la Repúplica (CAPES-UdelaR), Edital 050/2013 and Fundaçã de Amparo à Pesquisa do Estado de São Paulo (FAPESP), Brazil; contract grant number no. 2014/00984-3.