Disease: Alpha-Thalassemia
- A case of de novo -alpha(3.7) thalassaemia and the utility of CATSA for detecting de novo mutations in thalassaemia
- A case report on congenital hypothyroidism and alpha thalassemia in children with anemia and muscle damage as the main manifestation
- A high stable sample loading for analysis of adult alpha-thalassemia via the improved microarray isoelectric focusing of Hb species
- A large cohort of Hb H disease in northeast Thailand: A molecular revisited, diverse genetic interactions and identification of a novel mutation
- A moonlighting job for alpha-globin in blood vessels
- A Novel 165 Kb Duplication Involving the alpha-Globin Gene Cluster Is Identified by Low-Pass Whole Genome Sequencing in a Chinese Thalassemia Intermedia Patient
- A rare hemoglobinopathy duo: Hb Adana×Hb SEA in a 1-year-old patient - a case report and a brief literature review
- Acquired alpha-thalassemia in association with myelodysplastic syndrome
- Alpha globin gene alterations modifying the phenotype of homozygous beta thalassaemia
- alpha-Globin mutations and Genetic Variants in gamma-globin Promoters are Associated with Unelevated Hemoglobin F Expression of Atypical beta(0)-thalassemia/HbE
- Alterations in trace elements and cation profiles in transfusion-dependent thalassemia patients
- Analysis of rare mutations associated with Thalassemia and their hematological characteristics in Chenzhou region of Hunan Province
- Analysis of the Gene Mutation Type and Frequency of Thalassemia Patients in Jingzhou Area
- Ancestry of the major long-range regulatory site of the alpha-globin genes in the Portuguese population with the common 3.7 kb alpha-thalassemia deletion
- Anemia among Medical Students from Jakarta: Indonesia-Iron Deficiency or Carrier Thalassemia?
- Application of short tandem repeats (STRs) in the preimplantation genetic diagnosis (PGD) of alpha-thalassemia
- Association of <em>ZBTB38</em> gene polymorphism (rs724016) with height and fetal hemoglobin in individuals with sickle cell anemia
- Beta-thalassemia intermedia due to a complex alpha-globin rearrangement and a heterozygous beta thalassemia mutation
- Bone mineral density in adult thalassaemias: a retrospective longitudinal study
- Brainstem Gliomas With Isocitrate Dehydrogenase Mutation: Natural History, Clinical-Radiological Features, Management Strategy, and Long-Term Outcome
- Carrier screening for 223 monogenic diseases in Chinese population: a multi-center study in 33 104 individuals
- Cases Analysis of Hemoglobin H Disease Caused by <em>HBA2:c.2T>C</em> and <em>HBA2:c.2delT</em> Mutations
- Causes of Death and Mortality Trends in Individuals with Thalassemia in the United States, 1999-2020
- Challenges of managing anomalous mitral arcade with severe mitral regurgitation and hydrops fetalis in infants
- Changing epidemiology of parvovirus B19 in the Netherlands since 1990, including its re-emergence after the COVID-19 pandemic
- Clinical burden and healthcare resource utilization associated with managing transfusion-dependent beta-thalassemia in France
- Clinical characteristics, laboratory features and genetic profile of hemoglobin E (HBB:c.79 G > A)/beta (nucleotide -28 A > G) (HBB:c.-78 A > G) -thalassemia subjects identified from community- and hospital-recruited cohorts
- Comprehensive analysis of thalassemia alleles (CATSA) based on third-generation sequencing is a comprehensive and accurate approach for neonatal thalassemia screening
- Congenital metastatic neuroblastoma with placental involvement as a rare cause of non-immune fetal hydrops
- De-novo ATR-16 syndrome associated with inherited hemoglobin Evanston causing HbH phenotype: a rare occurrence
- Detection of 13 Novel Variants and Investigation of Mutation Distribution by Next Generation Sequencing in Hemoglobinopathies: A Single Center Experience
- Detection of alpha-thalassemia South-East Asian deletion based on a fully integrated digital polymerase chain reaction system DropXpert S6
- Development of pre-implantation genetic testing protocol for monogenic disorders (PGT-M) of Hb H disease
- Disease burden, management strategies, and unmet needs in alpha-thalassemia due to hemoglobin H disease
- Dual alpha-globin and truncated EPO receptor knockin restores hemoglobin production in alpha-thalassemia-derived red blood cells
- Echocardiographic assessment of cardiovascular physiology of preterm miniature piglets supported with a pumped artificial placenta system
- Elevating fetal hemoglobin - recently discovered regulators and mechanisms
- Elevating fetal hemoglobin: recently discovered regulators and mechanisms
- Epidemic of parvovirus B19 and disease severity in pregnant people, Denmark, January to March 2024
- Etiology and perinatal outcomes between early and late-onset nonimmune hydrops fetalis
- Evaluation of cardiac findings using speckle tracking in fetuses with hemoglobin Bart's disease
- Expert consensus on clinical genetic counseling of alpha-thalassemia gene analysis
- Exploring the bone marrow micro environment in thalassemia patients: potential therapeutic alternatives
- Fetal cardiac teratoma and pericardiocentesis: A case report
- From Alpha-Thalassemia Trait to NPRL3-Related Epilepsy: A Genomic Diagnostic Odyssey
- Glucose-6-phosphate dehydrogenase deficiency as a cause for nonimmune hydrops fetalis and severe fetal anemia: A systematic review
- H3 K27-altered diffuse midline glioma of the thalamus with formation of glio-fibrillary globular structures
- Hb A<sub>2</sub>-Guangxi [δ79 (EF3) Asp→Asn, <em>HBD</em>: C.238G > A] and polyA + 70 (<em>HBD</em>: C.*200G > A): Two Novel δ-Globin Gene Mutations Identified in a Chinese Family
- Hematological Profile of Hb Adana Among High School Students in Northeast Peninsular Malaysia
- Histopathological Spectrum of Gliomas and Its Immunohistochemical Correlation in a Tertiary Care Setup
- Hydrops fetalis caused by a complex congenital heart defect with concurrent hypoplasia of pulmonary blood vessels and lungs visualized by micro-CT in a French Bulldog
- Identification of a Novel 16.8Kb Deletion of the alpha-Globin Gene Cluster by Third-Generation Sequencing
- Identification of Novel Hb Guiyang [HBA2: c.151C > A α2 50 (CE8) His- Asn] and Phenotype- Genotype Correlation of Abnormal Hemoglobins in Guizhou, Southwest China
- In Utero Gene Therapy and its Application in Genetic Hearing Loss
- Increased Expression of alpha-Hemoglobin Stabilizing Protein (AHSP) mRNA in Erythroid Precursor Cells Isolated from beta-Thalassemia Patients Treated with Sirolimus (Rapamycin)
- Interplay between alpha-thalassemia and beta-hemoglobinopathies: Translating genotype-phenotype relationships into therapies
- Investigating the structural and functional consequences of germline single nucleotide polymorphisms located in the genes of the alternative lengthening of telomere (ALT) pathway
- Knockdown of ATRX enhances radiosensitivity in glioblastoma
- Loss of ATRX Protein Expression in an Aggressive Null Cell Pituitary Tumor
- Luspatercept for non-deletional hemoglobin H disease
- Lysine acetyltransferase 14 mediates TGF-β-induced fibrosis in ovarian endometrioma via co-operation with serum response factor
- Machine Learning-Based Prediction of Hemoglobinopathies Using Complete Blood Count Data
- Manuka combinations with nigella sativa and hydroxyurea in treating iron overload of pediatric beta-thalassemia major, randomized clinical trial
- Maternal "mirror" syndrome: Evaluating the benefits of fetal therapy
- METTL16 participates in haemoglobin H disease through m6A modification
- Microangiopathic thrombocytopenia caused by vitamin B12 deficiency responding to plasma exchange
- Microstrip isoelectric focusing with deep learning for simultaneous screening of diabetes, anemia, and thalassemia
- Mitoxantrone ameliorates ineffective erythropoiesis in a beta-thalassemia intermedia mouse model
- Moderate-severe beta-thalassemia intermedia phenotype caused by sextuplicated alpha-globin gene allele in two beta-thalassemia carriers
- Molecular characterization of similar Hb Lepore Boston-Washington in four Chinese families using third generation sequencing
- Molecular Diagnosis and Pedigree Analysis of Rare Mutations in Non-coding Region of <em>HBA2</em> Gene
- Multi-pool chemical exchange saturation transfer MRI in glioma grading, molecular subtyping and evaluating tumor proliferation
- Mutation Analysis of Exon 1 in the Hemoglobin Subunit Beta (HBB) Gene in Beta-Thalassemia
- New Born Screening of Hemoglobinopathies in a Center Tunisian Population
- Nonimmune Hydrops and Left-Sided Cardiac Defect: Prenatal Presentation of Kabuki Syndrome
- Nonimmune Hydrops Fetalis
- Novel therapeutic approaches in thalassemias, sickle cell disease, and other red cell disorders
- Overview of new approaches to beta-thalassemia treatment
- Parvovirus B19 in Pregnancy
- Polycythemia revealing PIEZO1 hereditary xerocytosis
- Prevalence of hemoglobinopathies among Malayali tribes of Jawadhu hills, Tiruvannamalai district, Tamil Nadu, India: a community-based cross-sectional study
- Relationship of TNFalpha-238 G/A (rs 361525) genotypes with TNFalpha gene expression in liver and pancreas disorders in sample of beta thalassemia major adult Iraqi patients
- Remodeling of perturbed chromatin can initiate de novo transcriptional and post-transcriptional silencing
- Routine antenatal molecular testing for alpha-thalassemia at a tertiary referral hospital in China: ten years of experience
- Spontaneous regression of fetal pleural effusion in pregnancy complicated with Herpes simplex infection: Clinical presentation and literature review
- Support Vector Machine-Based Formula for Detecting Suspected alpha Thalassemia Carriers: A Path toward Universal Screening
- Survival of transfused red blood cells from a donor with alpha-thalassemia trait in a recipient with sickle cell disease
- Systematic review and evidence gap assessment of the clinical, quality of life, and economic burden of alpha-thalassemia
- Systematic Review of Genetic Modifiers Associated with the Development and/or Progression of Nephropathy in Patients with Sickle Cell Disease
- Thalassemia Genotypes and HbA2 levels of Children in Wuzhou, Guangxi
- The Effects and Safety of Silymarin on beta-thalassemia in Children and Adolescents: A Systematic Review based on Clinical Trial Studies
- The Effects of Convalescent Plasma Transfusion on Serum Levels of Macrophage-Associated Inflammatory Biomarkers in Patients with Severe COVID-19
- The First Thai Case of Nondeletional HbH Disease Caused by Compound Heterozygosity for alpha-Thalassemia-1 Chiang Rai (--(CR)) Type Deletion with Hb Constant Spring
- The role of fetal therapy in the management of mirror syndrome: a narrative review
- The Role of FOXA1 in Human Normal Development and Its Functions in Sex Hormone-Related Cancers
- Therapeutic Relevance of Inducing Autophagy in beta-Thalassemia
- Third-generation sequencing identified a novel complex variant in a patient with rare alpha-thalassemia
- Transcriptional Repressor BCL11A in Erythroid Cells
- Uncommon Combination of Hemoglobin Jax and Hemoglobin Constant Spring Leading to Microcytic Anemia
- Use of HSC Targeted LNP to Generate a Mouse Model of Lethal alpha-Thalassemia and Treatment via Lentiviral Gene Therapy