Abstract

EANDI EBERLE, Silvia et al. Beta thalassemia intermedia: clinical characteristics and molecular analysis. Case series. Arch. argent. pediatr. [online]. 2015, vol.113, n.5, pp.e294-e298. ISSN 0325-0075.  http://dx.doi.org/10.5546/aap.2015.e294.

Beta thalassemiaintermediaisaquantitative 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.

Keywords : Beta thalassemia intermedia; Gene modifiers; Molecular analysis.

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