Most frequent mutations of β-thalassemia in Rosario, Argentina

I. M. Bragos, N. I. Noguera, L. Morisoli, A. C. Milani

Research output: Contribution to journalArticle

Abstract

The β-thalassemia syndromes are genetic disorders characterized by absence or decrease in β chain synthesis, producing an alteration in the α and β chain relationship. From the molecular point of view β-thalassemia is very heterogeneous. More than 100 mutations have been described. Each ethnic group has a variety of mutations; in the Mediterranean region there are more than 30 mutations, but only 8 of them are common. Our population is composed of different ethnic groups, with immigration principally from Italy and Spain. This study was an attempt to gather information regarding the presence of the most frequent mutations in our population.

Original languageEnglish
Pages (from-to)101-102
Number of pages2
JournalHaematologica
Volume85
Issue number1
Publication statusPublished - 2000

Keywords

  • β-thalassemia mutations

ASJC Scopus subject areas

  • Hematology

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    Bragos, I. M., Noguera, N. I., Morisoli, L., & Milani, A. C. (2000). Most frequent mutations of β-thalassemia in Rosario, Argentina. Haematologica, 85(1), 101-102.