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beta thalassemia syndromes:New insights

World Journal of Clinical Cases 2025年第10期13卷 1-8页

作者： Ana Dordevic Ines Mrakovcic-Sutic Sonja Pavlovic Milena Ugrin Jelena Roganovic Department of Business Development Jadran Galenski LaboratorijRijeka 51000Croatia Faculty of Medicine University of RijekaRijeka 51000Croatia Institute of Molecular Genetics and Genetic Engineering University of BelgradeBelgrade 11000Serbia Department of Pediatric Hematology and Oncology Children’s Hospital ZagrebZagreb 10000Croatia Faculty of Biotechnology and Drug Development University of RijekaRijeka 51000Croatia

beta thalassemia(β-thalassemia)syndromes are a heterogeneous group of inherited hemoglobinopathies caused by molecular defects in the beta-globin gene that lead to the impaired synthesis of beta-globin chains of the *** hallmarks of the disease include ineffective erythropoiesis,chronic hemolytic anemia,and iron *** presentation ranges from asymptomatic carriers to severe anemia requiring lifelong blood transfusions with subsequent devastating *** management of patients with severeβ-thalassemia represents a global health problem,particularly in low-income *** recently,management strategies were limited to regular transfusions and iron chelation therapy,with allogeneic hematopoietic stem cell transplantation available only for a subset of *** understanding of the underlying pathophysiological mechanisms ofβ-thalassemia syndromes and associated clinical phenotypes has paved the way for novel therapeutic options,including pharmacologic enhancers of effective erythropoiesis and gene therapy.

关键词： beta thalassemia Hemoglobin Molecular defects Ineffective erythropoiesis Hemolysis Transfusion Iron chelation Novel therapies

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Innovation for rare diseases and bioethical concerns: A thin thread between medical progress and suffering

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World Journal of Clinical Pediatrics 2018年第3期7卷 75-82页

作者： Alberto Tommasini ANDrea Magnolato Irene Bruno Department of Pediatrics Institute of Maternal and Child Health IRCCS Burlo Garofolo

With the development of precision medicines based on small molecules,antibodies,RNAs and gene therapy,technological innovation is providing some exciting possibilities to treat the most severe genetic ***,these treatments do not always lead to a cure for the disease,and there are several factors that may hinder their overall *** living during a period of great medical change and innovation may benefit from these technological advances but may also just face failures,both in terms of frustrated hopes as well as *** this article,we are telling the stories of three children with rare and severe disorders,who live in an age of significant medical changes,bearing the burden of difficult scientific and ethical *** first two cases that are suffering respectively from severe immunodeficiency and beta thalassemia have already been described in scientific journals,as well as in popular *** similar when considering the medical challenges,the two cases had opposite outcomes,which resulted in distinct ethical *** third case is a baby with spinal muscular atrophy,living at a time of continued innovation in the treatment of the *** these cases,we discuss the challenges of providing correct information and proper counseling to families and patients that are making the bumpy journey on the road of medical innovation.

关键词： X-severe combined immunodeficiency Primary immunodeficiency beta thalassemia Spinal

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