Hb H disease associated with compound heterozygosity for -- deletion and a novel alpha globin chain variant (:c.175C>A) on the distal histidine in a Chinese family.

Objectives: In clinical practice, the majority of α-thalassaemia cases arise from deletions of the α-globin genes. However, a subset of cases is attributed to rare haemoglobin variants, which can manifest with borderline or normal screening results, potentially leading to missed diagnoses in clinical practice.

Methods: Blood samples were collected from family members and underwent haematological, DNA and RNA analysis.

Comparing the severity of second preeclampsia with first preeclampsia: a multicenter retrospective longitudinal cohort study.

Objective: Compare the clinical severity of second preeclampsia with the first preeclampsia.

Methods: This retrospective longitudinal cohort study was conducted in three teaching hospitals in Guangzhou, where there were a total of 296 405 deliveries between 2010 and 2021. Two consecutive singleton deliveries complicated with preeclampsia were included.

Molecular spectrum and prevalence of thalassemia investigated by third-generation sequencing in the Dongguan region of Guangdong Province, Southern China.

Background: PCR, Sanger sequencing and NGS are often employed for carrier screening of thalassemia but all of these methods have limitations. In this study, we evaluated a new third-generation sequencing-based approach termed comprehensive analysis of thalassemia alleles (CATSA) to explore the prevalence of thalassemia in the Dongguan region of southern China.

Methods: 19,932 subjects were recruited for thalassemia screening and hemoglobin testing was performed for each of them.

Development, validation, and clinical utility of a risk prediction model for recurrent preeclampsia.

Objectives: We aim to establish a predictive model for recurrent preeclampsia.

Methods: A retrospective review of medical records from three hospitals between 2010 and 2021 was conducted. The study included women who had two consecutive singleton deliveries at the same hospital, with the first delivery complicated by preeclampsia.

[Results of carrier screening for Spinal muscular atrophy among 35 145 reproductive-aged individuals from Dongguan region].

Objective: To carry out carrier screening for Spinal muscular atrophy (SMA) in reproductive-aged individuals from Dongguan region and determine the carrier frequency of SMN1 gene mutations.

Methods: Reproductive-aged individuals who underwent SMN1 genetic screening at the Dongguan Maternal and Child Health Care Hospital from March 2020 to August 2022 were selected as the study subjects. Deletions of exon 7 and 8 (E7/E8) of the SMN1 gene were detected by real-time fluorescence quantitative PCR (qPCR), and prenatal diagnosis was provided for carrier couples by multiple ligation-dependent probe amplification (MLPA).

A stepwise haematological screening and whole-exome sequencing reveal multiple mutations from SUPT5H causing an elevation of Hb A from a cohort of 47336 individuals.

Introduction: Though an increase in Hb A is one of the most key markers of β-thal carriers, a few independent cases are reported to show elevated Hb A levels caused by mutations in other genes beyond β-globin gene.

Methods: We reviewed the haematological indices of 47336 individuals to analyse the phenotype-genotype correlation and identified 1439 individuals (3.04%) positive in the elevation of Hb A .

Two large novel alpha-globin gene cluster deletions causing alpha(0)-thalassemia in two Chinese families.

Introduction: Monosomy of terminal 16p13.3 is a relatively common subtelomeric abnormality, most affected individuals presented α-thalassemia, some also have mental retardation, developmental abnormalities and/or speech delay and facial dysmorphism, which is termed ATR-16 syndrome. Here, we reported two novel 16p13.

Hyperhaemolysis in a pregnant woman with a homozygous β -thalassemia mutation and two genetic modifiers.

Introduction: Patients with a homozygous β -thalassemia mutation usually have a transfusion-dependent β-thalassemia major phenotype. However, some β-thalassemia patients present with a relatively mild and even normal phenotype and always have a high level of Hb F induced by genetic modifiers.

Methods: In this study, we identified a homozygous β -thalassemia mutation (HBB: c.

Analysis of tissue from pregnancy loss and aborted fetus with ultrasound anomaly using subtelomeric MLPA and chromosomal array analysis.

Objective: To evaluate the incidence and types of chromosomal abnormalities in pregnancy loss and aborted fetuses with anomaly and compare the performance of subtelomeric MLPA and chromosomal microarray analysis (CMA) in these specimens.

Methods: Samples were collected from spontaneous miscarriages, stillbirths and aborted fetuses with anomaly between January 2015 and April 2019. Chromosomal abnormalities were detected using subtelomeric MLPA and CMA.

Polymorphisms of α-Globin Genes Compromise Polymerase Chain Reaction-Based α-Thalassemia Genotyping in Three Chinese Families.

In practice, gap-polymerase chain reaction (gap-PCR) and reversed dot-blot are the two most frequently used molecular diagnostic methods for α-thalassemia (α-thal) genotyping. Here, we describe three Chinese individuals from three unrelated families in whom a polymorphism on the α-globin gene cluster led to diagnostic pitfalls. During general molecular diagnosis of thalassemia, three individuals with unexplained results were found.

Prenatal findings and molecular cytogenetic analyses of a de novo interstitial deletion of 1q23.3 encompassing PBX1 gene.

Objectives: To present the prenatal findings and the molecular cytogenetic analyses of a de novo interstitial deletion of 1q23.3 encompassing PBX1 gene.

Case Report: A 32-year-old woman (gravida 1, para 0) underwent amniocentesis at 26 weeks' gestation because of constant small fetal kidneys on prenatal ultrasound.

Hb H Disease Results from Compound Heterozygosity of - - and -α in a Chinese Family.

The α-thal deletion of 3.557 kb (NG_000006.1: g.

Molecular and Hematological Characterization of Two Novel δ-Globin Gene Mutations Found in Chinese Individuals.

We identified two novel δ-globin gene mutations in two families during routine thalassemia screening. One missense mutation at codon 73 on the δ-globin gene [δ73(E17)Asp→Val, HBD: c.221A>T] which results in a Hb A variant homologous to the β-globin gene variant called Hb Mobile [β73(E17)Asp→Val, HBB: c.

Rapid and simultaneous detection of common aneuploidies by quadruplex real-time polymerase chain reaction combined with melting curve analysis.

Background: During the prenatal period, the number variation of chromosomes 13, 18, 21, X and Y accounts for more than 80% of the clinically significant chromosomal abnormalities diagnosed. Rapid tests for prenatal diagnosis of these abnormalities can improve pregnancy management and alleviate parental anxiety. Here, we present a molecular alternative method for detecting common aneuploidies.

[Analysis of the cause of pregnancy failure with combined MLPA assay for subtelomeric regions and ultrasonography].

Objective: To explore the value of multiplex ligation-dependent probe amplification (MLPA) for the detection of chromosome abnormalities in miscarriage tissues, and to correlate the result with ultrasound findings.

Methods: A total of 421 cases of spontaneous abortions and fetal deaths were detected with the MLPA method.

Results: Among the 421 samples, 232 (55.

Identification of targets of miRNA-221 and miRNA-222 in fulvestrant-resistant breast cancer.

The present study aimed to identify the differentially expressed genes (DEGs) regulated by microRNA (miRNA)-221 and miRNA-222 that are associated with the resistance of breast cancer to fulvestrant. The GSE19777 transcription profile was downloaded from the Gene Expression Omnibus database, and includes data from three samples of antisense miRNA-221-transfected fulvestrant-resistant MCF7-FR breast cancer cells, three samples of antisense miRNA-222-transfected fulvestrant-resistant MCF7-FR cells and three samples of control inhibitor (green fluorescent protein)-treated fulvestrant-resistant MCF7-FR cells. The linear models for microarray data package in R/Bioconductor was employed to screen for DEGs in the miRNA-transfected cells, and the pheatmap package in R was used to perform two-way clustering.

Rapid detection of α-thalassaemia alleles of --(SEA)/, -α(3.7)/ and -α(4.2)/ using a dual labelling, self-quenching hybridization probe/melting curve analysis.

Objectives: The aim of the study was to set up an alternative automatic molecular diagnostic method for deletional α-thalassaemia mutations without gel electrophoresis.

Methods: Based on the sequence variation within the two Z boxes and melting curve analysis of dually labelled probes, a real-time PCR assay was developed and validated for the rapid detection of major α-genotypes (--(SEA)/αα, --(SEA)/-α(3.7), --(SEA)/-α(4.

Delineation of the molecular basis of borderline hemoglobin A2 in Chinese individuals.

Background: The "gray zone" of borderline hemoglobin A2 (Hb A2) may be present in a large section of the population, especially in countries where thalassemia is common. However, very little is currently known of the molecular basis of borderline Hb A2 in Chinese individuals.

Method: In this study, we performed a comprehensive analysis of the globin genotypes and KLF1 gene mutations associated with borderline Hb A2 in 165 Chinese subjects.

[Analysis of hematological characteristics on the 79 co-inheritance of α-thalassemia and β-thalassemia carriers in Guangxi].

Objective: To investigate the hematological characteristics of co-inheritance of α-thalassemia (α-thal) and β-thalassemia (β-thal) and to survey the incidence of co-inheritance of α-thal and β-thal in Guangxi.

Methods: DNA samples from 370 primary and middle school students who were β-thal carriers in Guangxi were further processed for the α-goblin gene mutation screening, and were grouped based on the genotype of β- and α-goblin gene. The hematological indexes to the different groups were compared by One-way ANOVA.

[Analysis of the phenotype-genotype relationship of Hb Constant Spring].

Objective: To analyze the genotype-phenotype correlations in the Hb Constant Spring (HbCS) carriers, and to investigate the effect of HbCS on hematologic parameters.

Methods: Complete blood cell count and hemoglobin electrophoresis analyses were performed in 125 HbCS cases. The α-and β-thalassemia mutations were determined by reverse dot-blotting and Gap-PCR.

The molecular basis of beta-thalassemia intermedia in southern China: genotypic heterogeneity and phenotypic diversity.

Background: The clinical syndrome of thalassemia intermedia (TI) results from the beta-globin genotypes in combination with factors to produce fetal haemoglobin (HbF) and/or co-inheritance of alpha-thalassemia. However, very little is currently known of the molecular basis of Chinese TI patients.

Methods: We systematically analyzed and characterized beta-globin genotypes, alpha-thalassemia determinants, and known primary genetic modifiers linked to the production of HbF and the aggravation of alpha/beta imbalance in 117 Chinese TI patients.