Haplotype-Resolved Genotyping and Association Analysis of 1,020 β-Thalassemia Patients by Targeted Long-Read Sequencing.

Despite the well-documented mutation spectra of β-thalassemia, the genetic variants and haplotypes of globin gene clusters modulating its clinical heterogeneity remain incompletely illustrated. Here, a targeted long-read sequencing (T-LRS) is demonstrated to capture 20 genes/loci in 1,020 β-thalassemia patients. This panel permits not only identification of thalassemia mutations at 100% of sensitivity and specificity, but also detection of rare structural variants (SVs) and single nucleotide variants (SNVs) in modifier genes/loci.

Analysis of Hematological Indices and Splenectomy Rates in 2,130 Patients with Hemoglobin H Diseases or β-Thalassemia.

Introduction: Splenomegaly and hypersplenism are common complications of thalassemia patients due to the excessive clearance of defective red blood cells from the spleen. To date, splenectomy has been considered one of the most effective treatments for splenomegaly, reducing clinical severity among thalassemia patients. Thus, we aim to investigate the differences in splenectomy rates and hematological indices among thalassemia patients with different genotypes.

Humanoid Robot Cooperative Motion Control Based on Optimal Parameterization.

The implementation of low-energy cooperative movements is one of the key technologies for the complex control of the movements of humanoid robots. A control method based on optimal parameters is adopted to optimize the energy consumption of the cooperative movements of two humanoid robots. A dynamic model that satisfies the cooperative movements is established, and the motion trajectory of two humanoid robots in the process of cooperative manipulation of objects is planned.

A natural DNMT1 mutation elevates the fetal hemoglobin level via epigenetic derepression of the γ-globin gene in β-thalassemia.

DNA methyltransferase 1 (DNMT1) is a major epigenetic regulator of the formation of large macromolecular complexes that repress human γ-globin expression by maintaining DNA methylation. However, very little is known about the association of DNMT1 variants with β-thalassemia phenotypes. We systematically investigated associations between variants in DNMT1 and phenotypes in 1142 β-thalassemia subjects and identified a novel missense mutation (c.

[Oxidative Stress Status and Its Effect on Regulation of Hepcidin in Patients with HbHCS].

Objective: To investigate the oxidative stress status and its effects on hepcidin in patients with hemoglobin H Constant Spring disease (HbH-CS).

Methods: A total of 35 patients were enrolled in the study, including 15 splenectomized cases and 20 non-splenectomized cases. 20 healthy volunteers were selected as controls.