Open AccessBeta talasemia intermedia: características clínicas y estudio molecular. Serie de casos clínicos
Author(s) -
Silvia Eandi Eberle,
Carolina Pepe,
Fernando Aguirre,
Berenice Milanesio,
Diego Fernández,
Adrián P. Mansini,
Antonio González Chávez,
Gabriela Sciuccati,
Lilián Díaz,
Andrea Candás,
Vanesa Ávalos Gómez,
Mariana Bonduel,
Aurora Feliú Torres
Publication year - 2015
Publication title -
archivos argentinos de pediatría
Language(s) - Spanish
Resource type - Journals
SCImago Journal Rank - 0.236
H-Index - 19
eISSN - 1668-3501
pISSN - 0325-0075
DOI - 10.5546/aap.2015.e294
Subject(s) - gene , beta thalassemia , intermedia , medicine , beta (programming language) , thalassemia , biology , gastroenterology , microbiology and biotechnology , genetics , art , performance art , art history , computer science , programming language
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.