Results 21 to 30 of about 904,909 (193)

ESTUDO FAMILIAL DE UM COMPLEXO CASO DE HEMOGLOBINA C/BETA TALASSEMIA COM COERANÇA DE ALFA TALASSEMIA EM HOMOZIGOSE

open access: yesHematology, Transfusion and Cell Therapy, 2023
Objetivo: Relatar um estudo familial de um caso de coeranças de três mutações nos genes que expressam as cadeias alfa e beta da hemoglobina (Hb), o qual foi recebido e diagnosticado pelo Laboratório de Genética e Biologia Molecular (LGBM) da UFMS/CPTL ...
BBV Marques   +9 more
doaj   +1 more source

Impact of the preparation method of red cell concentrates on transfusion indices in thalassemia patients: A randomized crossover clinical trial. [PDF]

open access: yesTransfusion, 2021
Abstract Background The average hemoglobin content of red cell concentrates (RCC) varies depending on the method of preparation. Surprisingly less data are available concerning the clinical impact of those differences. Study Design and Methods The effects of two types of RCC (RCC‐A, RCC‐B) on transfusion regime were compared in a non‐blinded ...
Gamberini MR   +15 more
europepmc   +2 more sources

CARACTERIZAÇÃO DAS MUTAÇÕES DE BETA TALASSEMIA EM PESSOAS COM DOENÇA FALCIFORME (HB S/BETA TALASSEMIA): EXPERIÊNCIA DE CINCO ANOS DE UM CENTRO DE REFERÊNCIA

open access: yesHematology, Transfusion and Cell Therapy, 2023
Objetivos: Realizar a caracterização de mutações de beta talassemia em pessoas com doença falciforme (Hb S/Beta-talassemia). Material e métodos: No período de cinco anos, 29 amostras de pessoas com diagnóstico molecular inconclusivo para a doença ...
JJR Silva   +9 more
doaj   +1 more source

CONCENTRAÇÃO DE HEMOGLOBINA S COMO PARÂMETRO DE DIAGNÓSTICO DIFERECIAL EM CASOS DE TRAÇO FALCIFORME E COERANÇA DE ALFA TALASSEMIA

open access: yesHematology, Transfusion and Cell Therapy, 2023
Objetivo: Avaliar a influência da alfa talassemia em portadores da hemoglobina S (Hb AS) e determinar as concentrações de hemoglobina S (Hb S) como suporte de diagnóstico laboratorial.
IS Dias   +9 more
doaj   +1 more source

Talassemia beta maior: uma nova era Beta thalassaemia major: a new era

open access: yesRevista Brasileira de Hematologia e Hemoterapia, 2008
Rodolfo D. Cançado
doaj   +2 more sources

Incidence of cancer and related deaths in hemoglobinopathies: A follow‐up of 4631 patients between 1970 and 2021

open access: yesCancer, Volume 129, Issue 1, Page 107-117, 1 January 2023., 2023
Abstract Background The correlation between thalassemia and malignancies other than hepatocellular carcinoma (HCC) and the possible relationship between other hemoglobinopathies and tumor risk have been poorly evaluated. Methods Eight Italian specialized centers evaluated the incidence of malignant neoplasms in hemoglobinopathies as well as their sites
Raffaella Origa   +20 more
wiley   +1 more source

PRIMEIRO RELATO DE BETA TALASSEMIA INTERMÉDIA HETEROZIGOTA COMPOSTA PARA HBB:C.48G>A (CÓDON 15) E HBB:C.137C>T (CÓDON 87)

open access: yesHematology, Transfusion and Cell Therapy, 2023
Objetivo: O estudo se refere ao relato de caso de uma criança com dupla heterozigose de beta talassemia, sendo portanto, o primeiro registro da interação entre as mutações HBB:c.48G>A (Códon 15) e HBB:c.137C>T (Códon 87). Materiais e métodos: Uma amostra
KC Piva   +7 more
doaj   +1 more source

Long-term outcomes of avascular necrosis in sickle cell disease using joint-specific patient-reported outcome measures: Results from a multicentre study. [PDF]

open access: yesBr J Haematol
Summary Avascular necrosis (AVN) is a prevalent and progressive complication in young patients with sickle cell disease (SCD), but no study evaluated the long‐term subjective and objective outcome measures. Oxford hip score (OHS) and Oxford shoulder scores (OSS) are validated joint‐specific patient‐reported outcome measures (PROMs). In this prospective
Casale M   +9 more
europepmc   +2 more sources

DIAGNÓSTICO MOLECULAR DE BETA TALASSEMIA INTERMÉDIA: RELATO DE HETEROZIGOTO COMPOSTO PARA MUTAÇÃO HBB:C.118C>T (CD39) E HBB:C.-138C>T (-88C>T)

open access: yesHematology, Transfusion and Cell Therapy, 2023
Objetivo: Demonstrar a relevância do diagnóstico molecular na identificação de heterozigoto composto para beta talassemias HBB:c.118C>T (CD39) e HBB:c.-138C>T (-88C>T) em recém-nascido da triagem neonatal.
VS Ramos   +8 more
doaj   +1 more source

Selecting β‐thalassemia Patients for Gene Therapy: A Decision‐making Algorithm

open access: yesHemaSphere, Volume 5, Issue 5, May 2021., 2021
This expert opinion originally developed by a panel of the Italian Society of Thalassemias and Hemoglobinopathies (SITE), reviewed and adopted by the European Hematology Association (EHA) through the EHA Scientific Working Group on Red Cells and Iron, has been developed as priority decision‐making algorithm on evidence and consensus with the aim to ...
Donatella Baronciani   +13 more
wiley   +1 more source

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