Results 41 to 50 of about 147 (139)

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

Hematology, 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, ACM Berti, GA Bernardino, LA Souza-Junior, IS Dias, RD Costa, MF Galera, L Gazarini, E Belini-Júnior   +8 more
doaj   +1 more source

Abstract Book for the 27th Congress of the European Hematology Association

, 2022
HemaSphere, Volume 6, Issue S3, Page 1-4130, June 2022.
wiley   +1 more source

A Possible Case of β‐Thalassemia From the Cemetery of Santa Maria Maggiore in Vercelli (Piedmont, Northern Italy,18th Century)

International Journal of Osteoarchaeology, Volume 35, Issue 5, Page 341-350, September/October 2025.
ABSTRACT In Italy's Piedmont region, the city of Vercelli has a history of malaria transmission due to favorable conditions for Anopheles mosquitoes, which may have influenced the genetic prevalence of thalassemia. This study investigates the skeletal remains of a nonadult individual from the Church of Santa Maria Maggiore in Vercelli, dating to the ...
R. Fusco, C. Tesi, A. Mazzucchi, A. Vanni, M. Licata   +4 more
wiley   +1 more source

Abstract Book for the 2nd Sickle Cell & Thalassaemia Virtual Conference

, 2022
HemaSphere, Volume 6, Issue S1, Page 1-43, January 2022.
wiley   +1 more source

EHA2021 Virtual Congress Abstract Book

, 2021
HemaSphere, Volume 5, Issue S2, June 2021.
wiley   +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

British Journal of Haematology, Volume 206, Issue 1, Page 310-319, January 2025.
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
Maddalena Casale, Giuseppe Toro, Federica Porcelli, Alessandra Quota, Rosamaria Rosso, Vincenzo Spadola, Francesco Arcioni, Saveria Campisi, Domenico Roberti, Silverio Perrotta   +9 more
wiley   +1 more source

Luspatercept for Transfusion‐Dependent Beta‐Thalassemia: Real‐World Experience in a Large Cohort of Patients From Italy

American Journal of Hematology, Volume 100, Issue 9, Page 1651-1655, September 2025.
Raffaella Origa, Barbara Gianesin, Antonietta Zappu, Anna Rita Denotti, Mary Ann Di Giorgio, Roberta Sciortino, Irene Motta, Daniele Lello Panzieri, Rosamaria Rosso, Anna Bulla, Martina Culcasi, Anna Maria Pasanisi, Lucia De Franceschi, Rosario Di Maggio, Valeria Maria Pinto, Paola Maria Grazia Sanna, Paolo Ricchi, Giovan Battista Ruffo, Francesca Schieppati, Domenico Roberti, Giovanni Battista Ferrero, Elisa De Michele, Francesco Arcioni, Ilaria Fotzi, Sarah Marktel, Antonella Poloni, Giulia Soverini, Epifania Rita Testa, Giusy Cabiddu, Carmelo Fortugno, Antonia Gigante, Francesca Polese, Davide Rapezzi, Antonella Sau, Gian Luca Forni, Maria Domenica Cappellini, Filomena Longo   +36 more
wiley   +1 more source

Caracterização molecular e laboratorial da talassemia beta e da interação hemoglobina S/talassemia beta [PDF]

Revista Brasileira de Hematologia e Hemoterapia, 2010
Abstract Beta thalassemia arises as a consequence of the reduction(s+) or absence (s0) of beta globin chain synthesis and an overallreduction in hemoglobin synthesis. Currently, over 200 differentmolecular defects that cause beta thalassemia have been identified.Most of these defects are derived from point mutations characterizedby the exchange of a ...
openaire   +3 more sources

Pesquisa de hemoglobinopatias em cães da região metropolitana do Rio de Janeiro portadores de anemia crônica

Pesquisa Veterinária Brasileira
RESUMO: Talassemias e hemoglobinopatias são condições hereditárias encontradas em humanos de todo o mundo. Em medicina veterinária, o polimorfismo de hemoglobinas tem sido estudado em animais de produção, mas não existem relatos de hemoglobinopatias em ...
Gabriel Bobany de Queiroz, Sérgio Lisboa Machado, Helena Keiko Toma, Nayro Xavier Alencar, Daniel Barros Macieira, Nadia Regina Pereira Almosny   +5 more
doaj   +1 more source

Diagnóstico diferencial da deficiência de ferro Differential diagnosis of iron deficiency

Revista Brasileira de Hematologia e Hemoterapia, 2010
A deficiência de ferro é considerada a patologia hematológica mais prevalente no homem. Assim, é fundamental a adequada identificação de suas causas, bem como a diferenciação com outras patologias distintas para adequada abordagem da deficiência de ferro.
Perla Vicari, Maria Stella Figueiredo
doaj