title: [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: Servicio de Hematología y Oncología, Hospital de Pediatría Prof. Dr. J. P. Garrahan.
authors: Silvia
authors: S
authors: Eandi Eberle
authors: Servicio de Hematología y Oncología, Hospital de Pediatría Prof. Dr. J. P. Garrahan.
authors: Carolina
authors: C
authors: Pepe
authors: Servicio de Hematología y Oncología, Hospital de Pediatría Prof. Dr. J. P. Garrahan.
authors: Fernando
authors: F
authors: Aguirre
authors: Servicio de Hematología y Oncología, Hospital de Pediatría Prof. Dr. J. P. Garrahan.
authors: Berenice
authors: B
authors: Milanesio
authors: Servicio de Hematología y Oncología, Hospital de Pediatría Prof. Dr. J. P. Garrahan.
authors: Diego
authors: D
authors: Fernández
authors: Servicio de Hematología y Oncología, Hospital de Pediatría Prof. Dr. J. P. Garrahan.
authors: Adrián
authors: A
authors: Mansini
authors: Servicio de Hematología y Oncología, Hospital de Pediatría Prof. Dr. J. P. Garrahan.
authors: Alejandro
authors: A
authors: Chávez
authors: Servicio de Hematología y Oncología, Hospital de Pediatría Prof. Dr. J. P. Garrahan.
authors: Gabriela
authors: G
authors: Sciuccati
authors: Servicio de Hematología y Oncología, Hospital de Pediatría Prof. Dr. J. P. Garrahan.
authors: Lilian
authors: L
authors: Díaz
authors: Servicio de Hematología y Oncología, Hospital de Pediatría Prof. Dr. J. P. Garrahan.
authors: Andrea
authors: A
authors: Candás
authors: Servicio de Hematología y Oncología, Hospital de Pediatría Prof. Dr. J. P. Garrahan.
authors: Vanesa
authors: V
authors: Avalos Gómez
authors: Servicio de Hematología y Oncología, Hospital de Pediatría Prof. Dr. J. P. Garrahan.
authors: Mariana
authors: M
authors: Bonduel
authors: Servicio de Hematología y Oncología, Hospital de Pediatría Prof. Dr. J. P. Garrahan.
authors: Aurora
authors: A
authors: Feliú Torres
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008137:Longitudinal Studies; D008297:Male; D008875:Middle Aged; D025202:Molecular Diagnostic Techniques; D012189:Retrospective Studies; D055815:Young Adult; D017086:beta-Thalassemia / Q000175:diagnosis*