Beta talasemia intermedia: características clínicas y estudio molecular. Serie de casos clínicos

Translated title of the contribution: Beta thalassemia intermedia: Clinical characteristics and molecular analysis. Case series

Silvia Eandi Eberle, Carolina Pepe, Fernando Aguirre, Berenice Milanesio, Diego Fernández, Adrián Mansini, Alejandro Chávez, Gabriela Sciuccati, Lilian Díaz, Andrea Candás, Vanesa Avalos Gómez, Mariana Bonduel, Aurora Feliú Torres

Research output: Contribution to journalArticlepeer-review

Abstract

Beta thalassemia intermedia is a quantitative haemoglobinopathy covering a broad clinical spectrum, that results from the presence of one or two HBB gene mutations associated with secondary and/or tertiary genetic modifiers. We analyze the clinical and laboratory features of 29 patients with beta thalassemia intermedia, assessed over a period of 23 years. Median age was 10.8 years (range: 0.34-60.4). Hypochromic microcytic anemia was seen in 100% of the patients, while only 17.2% had splenomegaly and occasional transfusion requirement. The molecular analysis of patients detected: 3 with two HBB affected genes; 2 with one HBB affected gene and alpha quadruplicate/triplicate genes; 23 with one HBB affected gene and alpha triplicate genes and 1 with two HBB affected genes and polymorphisms of gamma genes. The adequate identification of these patients enables us to give appropriate genetic counseling and implementation of regular clinical follow up.

Translated title of the contributionBeta thalassemia intermedia: Clinical characteristics and molecular analysis. Case series
Original languageSpanish
Pages (from-to)e294-e298
JournalArchivos Argentinos de Pediatria
Volume113
Issue number5
DOIs
StatePublished - Jan 1 2015

Keywords

  • Beta thalassemia intermedia
  • Gene modifiers
  • Molecular analysis

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