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Thalassemia Reports
Volume 7
Issue 1
10.4081/thal.2017.5655
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Thalassemia Reports is published by MDPI from Volume 12 Issue 1 (2022). Previous articles were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence, and they are hosted by MDPI on mdpi.com as a courtesy and upon agreement with PAGEPress.
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Article

Alpha Hemoglobinophaties in Rosario, Argentina

by
Mara Jorgelina Ojeda
1,
Susana Mabel Perez
1,
Arianna Flavia Pratti
1,
Karina Lucrecia Calvo
1,
Mariana Paula Raviola
1,
María Eda Voss
1,
Gladis Marcela Williams
1,
Nélida Inés Noguera
1,
María Magdalena Carbonell
1,
Mónica Teresita Aixalá
2 and
Irma Margarita Bragós
1,*
1
Hematology Department, Faculty of Biochemical and Pharmaceutical Sciences, National University of Rosario, Rosario, Argentina
2
Laboratory Aixalá-Blanco, CABA, Argentina
*
Author to whom correspondence should be addressed.
Thalass. Rep. 2017, 7(1), 5655; https://doi.org/10.4081/thal.2017.5655
Submission received: 1 December 2015 / Revised: 1 December 2016 / Accepted: 27 December 2016 / Published: 28 December 2016

Abstract

Hemoglobinopathies are the most common recessive diseases worldwide. While the molecular basis of β-thalassemia in Rosario has been addressed, that of α-thalassemia and α structural alterations, has not. In this study 105 individuals from different families referred to our center were investigated for alpha hemoglobinopathies because of low MCV (<85 fL), low MCH (<27 dg), normal HbA2 (≤3.5%) and transferrin saturation of >15%. Six of them with a clinical phenotype of thalassemia intermedia were diagnosed as Hb H disease (five cases) and Hb H like (one case). It also included one patient with sickle cell trait, confirmed by hematological and molecular studies. We were able to identify alpha globin genes mutations in 92 individuals (87.6%): 88 patients with alpha thalassemia, 3 patients with structural alterations and one with both. In total, 13 individuals (12.4%) had no identified α-globin mutation. This study is the first to deal with the molecular basis of α-hemoglobinophaties in Rosario.
Keywords: hemoglobinopathies; alpha thalassemia; microcytic hypocromic anemia hemoglobinopathies; alpha thalassemia; microcytic hypocromic anemia

Share and Cite

MDPI and ACS Style

Ojeda, M.J.; Perez, S.M.; Pratti, A.F.; Calvo, K.L.; Raviola, M.P.; Voss, M.E.; Williams, G.M.; Noguera, N.I.; Carbonell, M.M.; Aixalá, M.T.; et al. Alpha Hemoglobinophaties in Rosario, Argentina. Thalass. Rep. 2017, 7, 5655. https://doi.org/10.4081/thal.2017.5655

AMA Style

Ojeda MJ, Perez SM, Pratti AF, Calvo KL, Raviola MP, Voss ME, Williams GM, Noguera NI, Carbonell MM, Aixalá MT, et al. Alpha Hemoglobinophaties in Rosario, Argentina. Thalassemia Reports. 2017; 7(1):5655. https://doi.org/10.4081/thal.2017.5655

Chicago/Turabian Style

Ojeda, Mara Jorgelina, Susana Mabel Perez, Arianna Flavia Pratti, Karina Lucrecia Calvo, Mariana Paula Raviola, María Eda Voss, Gladis Marcela Williams, Nélida Inés Noguera, María Magdalena Carbonell, Mónica Teresita Aixalá, and et al. 2017. "Alpha Hemoglobinophaties in Rosario, Argentina" Thalassemia Reports 7, no. 1: 5655. https://doi.org/10.4081/thal.2017.5655

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