title: [Beta thalassemia major in Argentina].
abstract: An analysis of beta thalassemia major patients seen at Hospital Juan P. Garrahan was carried out in order to determine the characteristics and outcome of the population. From August 1987 to July 2000, 45 patients were admitted (27 males-18 females). The most common beta globin gene defects were C-39 (30.7%); IVS-I nt 110 (20%); IVS-I nt 6 (13.3%); IVS-I nt 1(4%). alpha globin genes were normal in 42 patients, 1 patient had triplicate and cuadriplicate alpha globin genes and 2 patients were not analyzed. Six patients of 5 families were heterozygous for -158G gamma mutation. Allogeneic stem cell transplantation was performed in 7 patients, with an identical sibling. Transfusion-related infections and alloantibodies were detected in 6.7% patients. Growth assessment showed no significant difference in the stature of girls compared to the reference population, but 5 boys had short stature. There is a tendency to short trunk. Growth velocity was normal at prepubertal age. No X-ray lesions related to desferrioxamine were observed. Delayed puberty and hypogonadotropic hypogonadism were found in 35.7% and abnormalities in GH/IGF-I axis in 12.5% of the patients. Impaired glucose tolerance was found in 2 patients. No patient developed diabetes mellitus, thyroid or adrenal insufficiency. One patient had cardiac complications. Forty-two patients are alive and 3 died (cardiac failure 1, central nervous system bleeding 1, sepsis 1). We conclude that beta thalassemia major, originated mainly from Italian immigrants, has a cumbersome treatment and is severely hindered by the lack of adequate economic resources in our patients.
authors.affiliation: Servicio de Hematología-Oncología, Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Combate de los Pozos 1881, 1245 Buenos Aires, Argentina. afeliutorres@yahoo.com
authors.forename: Feliu Aurora
authors.initials: FA
authors.lastname: Torres
authors.forename: Mariana
authors.initials: M
authors.lastname: Bonduel
authors.forename: Gabriela
authors.initials: G
authors.lastname: Sciuccati
authors.forename: Ana
authors.initials: A
authors.lastname: del Pozo
authors.forename: Ariel
authors.initials: A
authors.lastname: Roldán
authors.forename: Marta
authors.initials: M
authors.lastname: Ciaccio
authors.forename: Virginia
authors.initials: V
authors.lastname: Orazi
authors.forename: Virginia
authors.initials: V
authors.lastname: Fano
authors.forename: Blanca
authors.initials: B
authors.lastname: Ozuna
authors.forename: Horacio
authors.initials: H
authors.lastname: Lejarraga
authors.forename: Sackmann Federico
authors.initials: SF
authors.lastname: Muriel
mesh_terms: D001118:Argentina; D002648:Child; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D005820:Genetic Testing; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D012189:Retrospective Studies; D017086:beta-Thalassemia / Q000150:complications / Q000235:genetics* / Q000628:therapy