[Beta thalassemia intermedia: clinical characteristics and molecular analysis. Case series].

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.

• Authors: 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
• Journal: Archivos argentinos de pediatria (Arch Argent Pediatr) Vol. 113 Issue 5 Pg. e294-8 (Oct 2015) ISSN: 1668-3501 [Electronic] Argentina
• Vernacular Title: Beta talasemia intermedia: características clínicas y estudio molecular. Serie de casos clínicos.
• PMID: 26294166 (Publication Type: Case Reports, Journal Article)

Topics

• Adolescent
• Adult
• Child
• Child, Preschool
• Female
• Humans
• Infant
• Longitudinal Studies
• Male
• Middle Aged
• Molecular Diagnostic Techniques
• Retrospective Studies
• Young Adult
• beta-Thalassemia (diagnosis)