Consulta: subjectFacets:"SS-Thalassemia"
Registros recuperados: 2
Data/hora: 02/06/2024 02:32:42

Thalassemia intermedia as a result of heterozygosis for ß0-thalassemia and aaaanti-3.7/aa genotype in a Brazilian patient
Provedor de dados: 56
Autores: Kimura,E.M.; Grignoli,C.R.E.; Pinheiro,V.R.P.; Costa,F.F.; Sonati,M.F.
We report a case in which the interaction of heterozygosis for both the ß0-IVS-II-1 (G-&gt;A) mutation and the &lt;FONT FACE=Symbol&gt;aaa&lt;/FONT&gt;anti-3.7 allele was the probable cause for the clinical occurrence of thalassemia intermedia. The propositus, a 6-year-old Caucasian Brazilian boy of Portuguese descent, showed a moderately severe chronic anemia in spite of having the ß-thalassemia trait. Investigation of the alpha-globin gene status revealed heterozygosis for alpha-gene triplication (&lt;FONT FACE=Symbol&gt;aaa&lt;/FONT&gt;/&lt;FONT FACE=Symbol&gt;aa&lt;/FONT&gt;). The patient's father, also presenting mild microcytic and hypochromic anemia, had the same alpha and ß genotypes as his son, while the mother, not related to the father and...
Tipo: Info:eu-repo/semantics/other
Palavras-chave: SS-Thalassemia; Thalassemia intermedia; Triplicated alpha-globin genes; Hemoglobinopathies.
Ano: 2003
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2003000600003

Urinary iron excretion induced by intravenous infusion of deferoxamine in ß-thalassemia homozygous patients
Provedor de dados: 56
Autores: Boturão-Neto,E.; Marcopito,L.F.; Zago,M.A.
The purpose of the present study was to identify noninvasive methods to evaluate the severity of iron overload in transfusion-dependent ß-thalassemia and the efficiency of intensive intravenous therapy as an additional tool for the treatment of iron-overloaded patients. Iron overload was evaluated for 26 ß-thalassemia homozygous patients, and 14 of them were submitted to intensive chelation therapy with high doses of intravenous deferoxamine (DF). Patients were classified into six groups of increasing clinical severity and were divided into compliant and non-compliant patients depending on their adherence to chronic chelation treatment. Several methods were used as indicators of iron overload. Total gain of transfusion iron, plasma ferritin, and urinary...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: SS-Thalassemia; Iron overload; Deferoxamine; Iron excretion.
Ano: 2002
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2002001100009