[Molecular Diagnosis and Pedigree Analysis of Rare Mutations in Non-coding Region of HBA2 Gene].

OBJECTIVE: To perform molecular diagnosis and pedigree analysis for one case with α-thalassemia who does not conform to the genetic laws, and explore the effects of a newly discovered rare mutation (HBA2:c.*12G>A) on clinical phenotypes. METHODS: Blood samples of the proband and her family members were collected for blood routine analysis, and the hemoglobin components were analyzed by capillary electrophoresis. The common α- and ß-globin gene loci in Chinese population were detected by conventional techniques (Gap-PCR, RDB-PCR). The α-globin gene sequences (HBA1, HBA2) were analyzed by Sanger sequencing. RESULTS: By analyzing the test results of proband and her family members, the genotype of the proband was -α3.7/HBA2:c.*12G>A, her father was HBA2:c.*12G>A heterozygous mutation carrier. CONCLUSION: This study identifies a rare α-globin gene mutation (HBA2:c.*12G>A) that has not been reported before. It is found that heterozygous mutation carriers present with static α-thalassemia.

Synergetic Optimization of Upper and Lower Surfaces of the SnO2 Electron Transport Layer for High-Performance n-i-p Perovskite Solar Cells.

The SnO2 electron transport layer (ETL) has been recognized as one of the most effective protocols for achieving high-efficiency perovskite solar cells (PSCs). To date, most research has primarily focused on the modification of the upper surface of SnO2 ETL films. The lower surface of the SnO2 film, which directly influences the film formation of solution-processed SnO2, is equally important but receives relatively less attention. Herein, we present a synergetic optimization approach involving the deposition of aluminum oxide (AlOx) via atomic layer deposition (ALD) as a buffer layer and the incorporation of rubidium acetate (RbAc) as an upper surface passivation additive. This process leads to a conformal coating of SnO2 nanoparticles, improved electrical performance, and higher-quality perovskite crystals. As a result, with this composite ETL film, the power conversion efficiency (PCE) reached 22.41 from 20.77%. Further modification with p-butyl iodide (BAI) on the perovskite upper surface increased the champion PCE to 23.32%, with a voltage loss of 0.41 V, ranking among the lowest values for the triple-cation mixed-halide perovskite absorber (1.58 eV). Importantly, the perovskite solar cells remained 87.30% of its initial performance after 14 days of aging and exhibited photostability under long-term UV (254 nm) illumination.

[Cases Analysis of Hemoglobin H Disease Caused by HBA2:c.2T>C and HBA2:c.2delT Mutations].

OBJECTIVE: To investigate two cases of rare pathogenic genes, initiation codon mutations in HBA2 gene, combined with Southeast Asian deletion and their family members to understand the relationship of HBA2:c.2T>C and HBA2:c.2delT mutations with clinical phenotype. METHODS: The peripheral blood of family members was obtained for blood cell analysis and capillary electrophoresis hemoglobin analysis. Gap-PCR and reverse dot blotting (RDB) were used to detect common types of mutations in ɑ-thalassaemia gene. Sanger sequencing was used to analyze HBA1 and HBA2 gene sequence. RESULTS: Two proband genotypes were identified as --SEA/αα with HBA2:c.2T>C and --SEA/αα with HBA2:c.2delT. HBA2:c.2T>C/WT and HBA2:c.2delT/WT was detected in family members. They all presented with microcytic hypochromic anemia. CONCLUSION: When HBA2:c.2T>C and HBA2:c.2delT are heterozygous that can lead to static α-thalassemia phenotype, and when combined with mild α-thalassemia, they can lead to the clinical manifestations of hemoglobin H disease. This study provides a basis for genetic counseling.