title: Clinical and biological specificity of beta-thalassemia intermedia: a case report.
abstract: We report the case of a nine-year-old girl, of Moroccan origin, hospitalised for fever and stomach ache. The clinical and biological investigations showed merely a moderate enlargement of the spleen associated with discrete regenerative hemolytic anemia. The etiologic analysis of the hemolysis was completed by the electrophoresis of hemoglobin (Hb) that revealed total absence of HbA, with the presence of 98.7% of HbF and 1.3% of HbA2. These results led to a diagnosis of β0 thalassemia associated with an intermediate phenotype, i.e. beta thalassemia intermedia (BTI). The molecular study of the β-globin gene evidenced a homozygous mutation at codon 35 of the exon 2 TAC>TAA (HBB: c.108C>A) leading to the premature stop codon. The study of several polymorphisms involved in the regulation of the expression of HbF concords with the intermediate phenotype found in the patient. This observation offers an opportunity to redefine BTI and further explore its clinical and genetic specificity.
authors.affiliation: Centre Hospitalier Universitaire, Département de biochimie et génétique, Angers, France.
authors.forename: Jean-Maxime
authors.initials: JM
authors.lastname: Girard
authors.affiliation: Centre Hospitalier Universitaire, Département de biochimie et génétique, Angers, France.
authors.forename: Guillaume
authors.initials: G
authors.lastname: Drevin
authors.affiliation: Centre Hospitalier Universitaire, Département de pédiatrie médicale, Unité d'onco-hémato-immunologie pédiatrique, Angers, France.
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Brasme
authors.affiliation: Groupe Hospitalier Universitaire Henri Mondor, Département de génétique, Inserm U955eq2/GReX, Créteil, France.
authors.forename: Serge
authors.initials: S
authors.lastname: Pissard
authors.affiliation: Centre Hospitalier Universitaire, Département de biochimie et génétique, Angers, France.
authors.forename: Pascal
authors.initials: P
authors.lastname: Reynier
authors.affiliation: Centre Hospitalier Universitaire, Département de biochimie et génétique, Angers, France.
authors.forename: Gilles
authors.initials: G
authors.lastname: Simard
authors.affiliation: Centre Hospitalier Universitaire, Département de biochimie et génétique, Angers, France.
authors.forename: Marie-Christine
authors.initials: MC
authors.lastname: Denis
mesh_terms: D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D006403:Hematologic Tests / Q000592:standards; D006801:Humans; D012680:Sensitivity and Specificity; D017086:beta-Thalassemia / Q000175:diagnosis*
keywords: beta-thalassemia intermedia; fetal hemoglobin; genes modifiers; genetic heterogeneity