TY - JOUR
T1 - Beta talasemia intermedia
T2 - características clínicas y estudio molecular. Serie de casos clínicos
AU - Eberle, Silvia Eandi
AU - Pepe, Carolina
AU - Aguirre, Fernando
AU - Milanesio, Berenice
AU - Fernández, Diego
AU - Mansini, Adrián
AU - Chávez, Alejandro
AU - Sciuccati, Gabriela
AU - Díaz, Lilian
AU - Candás, Andrea
AU - Gómez, Vanesa Avalos
AU - Bonduel, Mariana
AU - Torres, Aurora Feliú
PY - 2015/1/1
Y1 - 2015/1/1
N2 - 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.
AB - 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.
KW - Beta thalassemia intermedia
KW - Gene modifiers
KW - Molecular analysis
UR - http://www.scopus.com/inward/record.url?scp=84942097805&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84942097805&partnerID=8YFLogxK
U2 - 10.5546/aap.2015.e294
DO - 10.5546/aap.2015.e294
M3 - Article
C2 - 26294166
AN - SCOPUS:84942097805
SN - 0325-0075
VL - 113
SP - e294-e298
JO - Archivos Argentinos de Pediatria
JF - Archivos Argentinos de Pediatria
IS - 5
ER -