A novel case of Hb Bart's hydrops fetalis following prenatal diagnosis: Case report from Huizhou, China.

Objective: Presentation of a novel case of a patient with Hb Bart's hydrops fetalis, which was accurately identified by SMRT sequencing leading to expand the mutation spectrum of α-thalassemia.

Case Report: A 26-year-old pregnant woman and her husband underwent molecular analysis of thalassemia due to abnormal hematological results. The molecular analysis showed that the pregnant woman carried -α/--, while her husband exhibited a negative result.

Genomic and Phenotypic Analysis of Bacteriophages Identifies Two Novel Phage Species.

Bacteriophages (phages) are potential alternatives to chemical antimicrobials against pathogens of public health significance. Understanding the diversity and host specificity of phages is important for developing effective phage biocontrol approaches. Here, we assessed the host range, morphology, and genetic diversity of eight phages isolated from a wastewater treatment plant.

Molecular analysis and clinical significance of hemoglobin Quong Sze in Huizhou city, Southern China.

Objective: Hemoglobin Quong Sze (Hb QS) is one of the most common non-deletional α-thalassemia (α-thal), which is prevalent in the Southern Chinese population. However, there are still few comprehensive researches on the molecular characterization of Hb QS. So it is important to find out appropriate diagnosis and characterization of Hb QS carrier for genetic counseling.

[Association Analysis between Genotype and Phenotype of α,β-Thalassaemia Carriers in Huizhou Area of Guangdong Province].

Objective: To analyze the prevalence, genotype distribution and hematological characteristics of α,β-thalassaemia carriers in Huizhou area of Guangdong Province.

Methods: 10 809 carriers of simple β-thalassaemia and 1 757 carriers of α,β-thalassaemia were enrolled as our study cohort. The hematological parameters were detected by automated blood cell counters and automatic capillary electrophoresis.

LC-MS/MS-Based Absolute Quantitation of Hemoglobin Subunits from Dried Blood Spots Reveals Novel Biomarkers for α-Thalassemia Silent Carriers.

Identification of α-thalassemia silent carriers is challenging with conventional phenotype-based screening methods. A liquid chromatography tandem mass spectrometry (LC-MS/MS)-based approach may offer novel biomarkers to address this conundrum. In this study, we collected dried blood spot samples from individuals with three α-thalassemia subtypes for biomarker discovery and validation.

A Case of Misdiagnosis Caused by the Coinheritance of Hb G-Siriraj [β7(A4)Glu→Lys; : c.22G>A] and Hb H Disease.

Despite the fact that most hemoglobin (Hb) variants are clinically and hematologically silent, they can interact with thalassemias, which could sometimes give rise to complicated routine thalassemia diagnostics. Hb G-Siriraj [β7(A4)Glu→Lys; : c.22G>A] alone is a benign condition, but its coinheritance with α-thalassemia (α-thal) may lead to misdiagnosis.

Case Report: The third-generation sequencing confirmed a novel 7.2 Kb deletion at β-globin gene in a patient with rare β-thalassemia.

Thalassemia was the most common monogenic diseases worldwide, which was caused by mutations, deletions or duplications in human globin genes which disturbed the synthesis balance between α- and β-globin chains of hemoglobin. There were many classics methods to diagnose thalassemia, but all of them had limitations. Although variations in the human β-globin gene cluster were mainly point mutations, novel large deletions had been described in recent years along with the development of DNA sequencing technology.

A novel 15.8 kb deletion α-thalassemia confirmed by long-read single-molecule real-time sequencing: Hematological phenotypes and molecular characterization.

Background: Thalassemia is the most frequent recessive Mendelian inherited monogenic disease worldwide, and is characterized by the impaired synthesis of globin chains due to disease-causing variants in α- or β-globin genes. There are many conventional methods to diagnose thalassemia but all of them have limitations.

Case Report: We present the case of a 37-year-old female with abnormal values of routine hematological indices who was admitted for genetic screening of thalassemia.

Genetic counseling and prenatal decision for hemoglobin H disease caused by the rare α2 codon 30 (-GAG) (HBA2: c.91_93delGAG) mutation and the SEA deletion: Case series study.

Objective: We report a rare mutation on the α2-globin gene, HBA2: c.91_93delGAG and its potential functions.

Case Report: We mainly described four patients with hemoglobin (Hb) H disease caused by the rare mutation and the SEA deletion but diversity in clinical presentation.

[Diagnosis and clinical phenotype analysis of a case with large fragment homozygous deletion of rare β gene cluster].

Objective: To report on a case with homozygous deletion of large β gene cluster and its clinical characteristics.

Methods: A total of 71 001 peripheral blood samples were subjected to capillary electrophoresis and conventional testing for common thalassemia mutations. The genotypes of suspected β gene cluster deletions were analyzed by Gap-PCR and multiplex ligation-dependent probe amplification (MLPA).

Bacteriophage-Induced Lipopolysaccharide Mutations in Lead to Hypersensitivity to Food Grade Surfactant Sodium Dodecyl Sulfate.

Bacteriophages (phages) are considered as one of the most promising antibiotic alternatives in combatting bacterial infectious diseases. However, one concern of employing phage application is the emergence of bacteriophage-insensitive mutants (BIMs). Here, we isolated six BIMs from B in the presence of phage T4 and characterized them using genomic and phenotypic methods.

[Phenotypic and genotypic analysis of 45 cases with Hemoglobin Q-Thailand].

Objective: To explore hematological and molecular characteristics of Hemoglobin Q-Thailand in Huizhou area of Guangdong Province.

Methods: A total of 34 977 samples were screened by capillary and agarose gel electrophoresis. Samples suspected with HbQ strips were subjected to blood cell count and DNA sequencing.

Evaluation and comparison of three assays for molecular detection of spinal muscular atrophy.

Background: Spinal muscular atrophy (SMA) is mainly caused by deletions in SMA-related genes. The objective of this study was to develop gene-dosage assays for diagnosing SMA.

Methods: A multiplex, quantitative PCR assay and a CNVplex assay were developed for determining the copy number of SMN1, SMN2, and NAIP.

Molecular characterization and copy number of SMN1, SMN2 and NAIP in Chinese patients with spinal muscular atrophy and unrelated healthy controls.

Background: Spinal muscular atrophy (SMA) is caused by SMN1 dysfunction, and the copy number of SMN2 and NAIP can modify the phenotype of SMA. The aim of this study was to analyze the copy numbers and gene structures of SMA-related genes in Chinese SMA patients and unrelated healthy controls.

Methods: Forty-two Chinese SMA patients and two hundred and twelve unrelated healthy Chinese individuals were enrolled in our study.

Prevalence of human papillomavirus infection in Guangdong Province, China: a population-based survey of 78,355 women.

Background: The prevalence of human papillomavirus (HPV) infection and the distribution of different HPV genotypes vary greatly within different geographical and ethnic populations, especially in Asia. The HPV infection data based on regional population are extremely important for researchers to develop new efficient HPV screening assays and estimate the effect of vaccines on preventing from cervical cancer.

Methods: A total of 78,355 women from Guangdong Province, China, whose ages were from 18 to 75 years were enrolled in this study.

Impact of the CYP3A5, CYP3A4, COMT, IL-10 and POR genetic polymorphisms on tacrolimus metabolism in Chinese renal transplant recipients.

Tacrolimus is a widely used immunosuppressive drug for preventing the rejection of solid organ transplants. The efficacy of tacrolimus shows considerable variability, which might be related to genetic variation among recipients. We conducted a retrospective study of 240 Chinese renal transplant recipients receiving tacrolimus as immunosuppressive drug.

A quantitative assay to detect α-thalassemia deletions and triplications using multiplex nested real-time quantitative polymerase chain reaction.

Increasing evidence indicates that copy number variants (CNVs) have great relevance to common human diseases. In α-thalassemia, clinical phenotypes are related to genotypes, specifically copy number changes in the human α-globin gene cluster. Assays are available for high-throughput screening of unknown CNVs genome-wide and also for targeted CNV genotyping at loci associated with genetic disorders.