Two Novel α-Thalassemia Mutations CD 39 -C [Thr > Pro] and CD 109 ACC > CCC [Thr > Pro] Identified in Two Chinese Families: A Case Report

We reported the identification of two rare α-thalassemia silent carriers with novel HBA1 mutations of CD 39 -C [Thr > Pro] (HBA1: c.114del; p.Thr39Profs*11) and CD 109 ACC > CCC [Thr > Pro] (HBA1: c.325A > C; p. Thr109Pro), respectively. The two probands were pregnant women diagnosed with mild hypochromic anemia or microcytic hypochromic anemia by routine blood tests. They started iron therapy before taking differential diagnosis from iron deficiency anemia. After wait and watch approach, they both accepted thalassemia genetic screening, which identified CD 39 -C [Thr > Pro] and CD 109 ACC > CCC [Thr > Pro], respectively. Due to inappropriate iron therapy, worse anemia and iron overload were noticed in the first proband, but no obvious side effect was found in both probands. Functional analysis showed that, relative to the wild type, CD 39 -C [Thr > Pro] considerably reduced the expression of the HBA1 protein while CD 109 ACC > CCC [Thr > Pro] only had a minor impact. Our study highlighted the importance of gestational thalassemia screening based on next-generation sequencing for identifying novel rare thalassemia variants and increased our understanding about the relationship between genotype and phenotype of α-thalassemia.</p

High Strength Magnetic/Temperature Dual-Response Hydrogels for Applications as Actuators

Anisotropically structured magnetic/temperature dual-response hydrogels have great application prospects as actuators because they can exhibit controlled, complex behaviors. However, one key issue hindering the application of such hydrogels is the imbalance of the mechanical and response properties. This study used a combination of flexible chain polymers such as poly(N-isopropylacrylamide) (PNIPAM), poly(vinyl alcohol) (PVA), and polyacrylamide (PAM) to build a multinetwork structure. The introduction of TEMPO-oxidized cellulose nanofibrils (TOCNF) as a nanofiber reinforcement agent led to a key improvement to ensure a high mechanical strength by creating additional hydrogen bonding. The cross-linking density was further increased through a salting out treatment to obtain a greater mechanical strength while improving the dissipation of energy applied by external sources. The obtained temperature responsive layer featured a high tensile strength (1.97 MPa) while the magnetically responsive layer showed a high magnetization (6.1 emu/g) with a good tensile strength (0.47 MPa). The main idea of this study was in combining two hydrogel layers with different polymer network structures, with magnetic nanoparticles being dispersed within one layer, whereas the other layer was designed as temperature-sensitive. The obtained bilayer hydrogel had suitable mechanical properties (the tensile strength reaching 0.81 MPa) coupled with strong dissipation of the applied external energy and could rapidly and reversibly undergo bending deformations upon a temperature change within a narrow range, 25–37 °C (bending angle up to 160° within 5 min). With high magnetization characteristics for the magnetically responsive layer, the bilayer hydrogel could easily be driven by an external magnetic field to transport a target object, which was “grabbed” due to the gel bending. It also showed good biocompatibility, thus enabling applications in the field of invasive medical actuators