[HTML][HTML] Determinants of severity in sickle cell disease
Sickle cell disease is a very variable condition, with outcomes ranging from death in
childhood to living relatively symptom free into the 8 th decade. Much of this variability is …
childhood to living relatively symptom free into the 8 th decade. Much of this variability is …
Endocrinopathies in Hemoglobinopathies: What Is the Role of Iron?
P Evangelidis, TM Venou, B Fani, E Vlachaki… - International Journal of …, 2023 - mdpi.com
Hemoglobinopathies, including β-thalassemia and sickle cell disease (SCD), are common
genetic blood disorders. Endocrine disorders are frequent manifestations of organ damage …
genetic blood disorders. Endocrine disorders are frequent manifestations of organ damage …
Sickle cell disease landscape and challenges in the EU: the ERN-EuroBloodNet perspective
MMM Pereira, R Colombatti, F Alvarez… - The Lancet …, 2023 - thelancet.com
Sickle cell disease is a hereditary multiorgan disease that is considered rare in the EU. In
2017, the Rare Diseases Plan was implemented within the EU and 24 European Reference …
2017, the Rare Diseases Plan was implemented within the EU and 24 European Reference …
Impact of α-Globin Gene Expression and α-Globin Modifiers on the Phenotype of β-Thalassemia and Other Hemoglobinopathies: Implications for Patient Management
J Traeger-Synodinos, C Vrettou, C Sofocleous… - International Journal of …, 2024 - mdpi.com
In this short review, we presented and discussed studies on the expression of globin genes
in β-thalassemia, focusing on the impact of α-globin gene expression and α-globin modifiers …
in β-thalassemia, focusing on the impact of α-globin gene expression and α-globin modifiers …
Global globin network consensus paper: classification and stratified roadmaps for improved thalassaemia care and prevention in 32 countries
The Global Globin Network (GGN) is a project-wide initiative of the Human Variome/Global
Variome Project (HVP) focusing on haemoglobinopathies to build the capacity for genomic …
Variome Project (HVP) focusing on haemoglobinopathies to build the capacity for genomic …
Global perspectives on cellular therapy for children with sickle cell disease
TD John, R Namazzi, L Chirande… - Current opinion in …, 2022 - journals.lww.com
Translation of curative cellular based therapies for SCD should be prioritized to LMICs
where the disease burden and cost of noncurative treatments is high, and long-term quality …
where the disease burden and cost of noncurative treatments is high, and long-term quality …
Learning from conect4children: A Collaborative Approach towards Standardisation of Disease-Specific Paediatric Research Data
The conect4children (c4c) initiative was established to facilitate the development of new
drugs and other therapies for paediatric patients. It is widely recognised that there are not …
drugs and other therapies for paediatric patients. It is widely recognised that there are not …
Progress and harmonization of gene editing to treat human diseases: Proceeding of COST Action CA21113 GenE-HumDi
The European Cooperation in Science and Technology (COST) is an intergovernmental
organization dedicated to funding and coordinating scientific and technological research in …
organization dedicated to funding and coordinating scientific and technological research in …
Global Globin Network and adopting genomic variant database requirements for thalassemia
Thalassemia is one of the most prevalent monogenic disorders in low-and middle-income
countries (LMICs). There are an estimated 270 million carriers of hemoglobinopathies …
countries (LMICs). There are an estimated 270 million carriers of hemoglobinopathies …
Insights in thalassemia: from genomics to clinical practice
Thalassemia, a common inherited autosomal recessive disorder, is characterized by
inefficient or absent hemoglobin synthesis, resulting in various severities of anemia (1) …
inefficient or absent hemoglobin synthesis, resulting in various severities of anemia (1) …