PBI22 Rethinking the Health-Economic Evaluation Framework for GENE Therapies: The Betibeglogene Autotemcel (BETI-CEL) Case in Î’-Thalassemia [PDF]
Value in Health, 2020 L. Undreiner +3 more
openaire +1 more source
Mesiodistal crown diameters and tooth size discrepancy of permanent dentition in thalassemic patients [PDF]
, 2013 Objectives: To provide a description of mesiodistal crown diameters (MD) and tooth-size discrepancy (TSD) of the permanent dentition in patients with thalassemia major (TM) and to compare the results with those of unaffected control group.
Hattab, F.N.
core +1 more source
Cas9 beyond CRISPR – SUMOylation, effector‐like potential and pathogenic adaptation
The FEBS Journal, EarlyView.This Viewpoint explores the possibility that Cas9, beyond its canonical role in CRISPR immunity, may act as a host‐modulating effector during infection by Cas9‐encoding bacteria. Such a nucleomodulin‐like function could be influenced by eukaryotic post‐translational modifications, particularly SUMOylation, with potential implications for host–pathogen ...
Umut Sahin
wiley +1 more source
Insulin-like growth factor-1 levels in children with Beta-thalassemia minor [PDF]
, 2008 Objective: Growth retardation in children with b-thalassemia major is multifactorial. Some etiologies described for this condition are hemochromatosis, disturbed growth hormone (GH) / insulin growth factor-1 (IGF-1) axis, undernutrition and ...
Hamdollah Karamifar +2 more
core
Molecular Testing in Sickle Cell Disease: From Newborn Screening to Transfusion Care
International Journal of Laboratory Hematology, EarlyView.ABSTRACT Sickle cell disease (SCD) is one of the most frequent monogenic diseases worldwide and a highly heterogeneous and complex disease. SCD care carries several challenges. This includes early and accurate diagnosis as well as optimal red blood cell transfusion matching in this population carrying a high risk of alloimmunization.
Thomas Pincez, Yves D. Pastore
wiley +1 more source
Clinical manifestations of β-thalassemia major in two different altitudes; Bushehr and Shahrekord [PDF]
, 2015 Patients with β-thalassemia major (TM) develop iron overload through increased iron absorption and transfusional therapy and it’s the most important complication of TM. Thalassemia is common in coastal regions and lands with low altitudes.
Darabi, Hossein. +8 more
core +4 more sources
International Journal of Laboratory Hematology, EarlyView.ABSTRACT Background Accurate classification of novel globin gene variants is critical for the diagnosis and management of thalassaemia. The adaptation of ACMG/AMP guidelines for globin genes represents an important step toward standardising variant interpretation and enhancing clinical utility in the field.
Norafiza Mohd Yasin +14 more
wiley +1 more source
The Progress in Treatment of β-Thalassemia and Research on Animal Models of the Disease
Applied Sciencesβ-thalassemia is one of the most prevalent single-gene recessive disorders worldwide, characterized by the impaired synthesis of β-globin chains, which leads to ineffective erythropoiesis and results in anemia and iron overload, along with various ...
Shumeng Zhang +5 more
doaj +1 more source
Third-degree heart block in thalassemia major: A case report [PDF]
, 2012 Background: First and second-degree heart blocks are partly common rhythm disorders in thalassemic patients but complete heart block is a very rare complication of iron overload cardiomyopathy.
Hosseini, S.M., Maleki, A.R., Nikyar, B.
core +1 more source
Current Progress in Therapeutic Gene Editing for Monogenic Diseases [PDF]
, 2016 Programmable nucleases allow defined alterations in the genome with ease-of-use, efficiency, and specificity. Their availability has led to accurate and widespread genome engineering, with multiple applications in basic research, biotechnology, and ...
Moore, Marc +2 more
core +1 more source