The -()(5.2) Deletion Detected in a Uruguayan Family: First Case Report in the Americas

Author(s)

Maria Soler, Ana ; Schelotto, Magdalena ; de Oliveira Mota, Natalia ; Dorta Ferreira, Roberta ; de Fatima Sonati, Maria ; Abayuba da Luz, Julio

• Document type: Journal article
• Source: HEMOGLOBIN; v. 40, n. 4, p. 289-292, AUG 2016.
• Web of Science Citations: 0

Abstract

In Uruguay, -thalassemia (-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 -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 700bp) in the samples from the proband and mother. Automated sequencing of the amplified fragment showed the presence of the -()(5.2) deletion (NG\_000006.1: g.32867\_38062del5196) {[}an -thal-1 deletion of 5196 nucleotides (nts)]. The MLPA analysis of the proband's sample also showed the presence of the -()(5.2) deletion in heterozygous state. We report here the presence of the -()(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. (AU)

• FAPESP's process: 14/00984-3 - Red blood cell disorders: pathophysiology and new therapeutic approaches
• Grantee: Fernando Ferreira Costa
• Support Opportunities: Research Projects - Thematic Grants