Exploring the protective effects of thalassemia against malaria in Africa: a systematic review.

Implications of Glomus Tumor Pathology and Pain Mechanism for Surgical Treatment.

Molecular Methods for Rare Hemoglobinopathy Cases: First Brazilian Report of Pediatric Siblings with Hb O-Arab and Alpha-Thalassemia.

Kinetics of antimalarial antibodies in children with common haemoglobinopathies in a Tanzanian population.

Transforming the treatment of Alpha-Thalassemia: a single-center retrospective study on hematopoietic stem cell transplantation in transfusion-dependent pediatric patients.

DNMT3A R882C variant in a patient with a presumed pineal gland tumor, highlighting potential tumor susceptibility in Tatton-Brown-Rahman syndrome.

Systematic Review of Non-Coding Genomic Variants in Globin and Non-Globin Clusters and Their Impact on Phenotypic Severity in Thalassemia and Sickle Cell Disease.

Difficult Cases in the Diagnosis of Thalassemia Syndromes.

Homozygous Hb Sallanches (HBA2:c.314G > A): An Uncommon Non-Transfusion Dependent α-Thalassemia with Reticulocytosis.

Altered Brain Structure in an ATRX-Deficient Mouse Model of Autism Spectrum Disorder.

Local heterochromatin enrichment promotes telomere clustering and PML nuclear body assembly at telomeres.

α-Thalassemia has no association with asymptomatic Plasmodium falciparum carriage in three ecological zones of Ghana.

Hemoglobin Bart's disease and the Agrinio mutation: A case report of successful fetal intervention.

Diagnostic Limitations of Hemoglobin A1c in the Setting of Compound Hemoglobinopathy: A Case Report of Sickle Cell Disease, Alpha Thalassemia, and Occult Diabetes.

ATRX loss couples genome instability at a G-rich repeat to dysregulation of human alpha-globin expression.

Machine learning and AI-Assisted red blood cell morphology analysis for effective thalassemia screening.

[Genetic screening and typing study of Thalassemia among ethnic Miao Group in Qianxinan area of China].

Activated partial thromboplastin time prolongation without hemorrhagic dienhesis: a study of a chinese family coexisting with hereditary KNG1 p.Arg240 mutation and --SEA/αα genotype thalassemia.

Many faces of non‑deletional α‑thalassaemia variants in neonate and early childhood.

Economic burden of non-transfusion-dependent thalassemia in the United States.

Familial erythrocytosis and phenotypic heterogeneity associated with different defects in alpha globin genes: a significant new case of Hb Wroclaw (α88(F9) Ala>Glu; HBA1: c.266C>A).

Prevalence of Severe Thalassemia and Performance of Prenatal Screening Tests Among Pregnant Women at Siriraj Thalassemia Center in Thailand.

Risk Factors for Anemia in Silent Carrier or Minor α-Thalassemia.

Mild Thalassemic Effect of Heterozygous Hb Sogn in a Large Cohort from Routine Hemoglobinopathy Investigation.

Hemoglobin Chapel Hill masquerading as hemoglobin S in newborn sickle cell screening: A case study.

Analysis of clinical parameters of different types of α-thalassemia children in Hainan region, China.

Molecular and clinical characterization of -α4.2 subtypes in Shenzhen, Southern China.

Genetic patterns & public health implications of sickle cell anaemia across populations: A systematic review.

A New Method for Screening Thalassemia Patients Using Mid-Infrared Spectroscopy.

Innovative Rapid Detection System for Nondeletion-Type α‑Thalassemia via Whole-Blood Amplification and Microfluidic Technology.

[The Role of MiR-709 in Erythroid Development and Its Correlation with Multiple Hematological Diseases].

[Analysis of Gene Types and Clinical Characteristics of Thalassemia in Children in Nanchong Area].

[Screening Results of Thalassemia and Analysis of Rare Genotypes].

ACMG/AMP-Based Variant Classification of a Novel HBA2 Variant (HBA2: C.297del, Hb Taiping) in Compound Heterozygosity With Hb Adana (HBA2:C.179G>A) Causing Non-Deletional Hb H Disease.

Profiling structural variations of the α-globin gene cluster by the single molecule real-time sequencing: remarkable diversity of the spectrum with rare and novel variants identified in a large Chinese cohort.

Structural heterogeneity and functional convergence of transposable elements.

Prevalence of Haemoglobin Constant Spring in the Malaysian population: Insights from a single-center study.

Carrier screening for multiple complex monogenic diseases using long-read sequencing: a population-based study of premarital couples in Shanghai.

Analysis of Hematological Parameters in Relation to Genotypes in 497 Patients with Hemoglobin H Disease.

Importance of the 3'UTR region in globin synthesis: identification of two novel HBA1 mutations causing α-Thalassemia.

Performance of the automated DNA extraction with MagNA Pure 24 for further genetic testing for hemoglobinopathies with Globin StripAssays.

Family trios/quartets analysis based on the Newborn Genomic Atlas for Thalassemia project in Guangxi.

Comparative analysis of the frequencies of α-thalassemia-associated mutations in microcytic patients and healthy volunteers in Rio de Janeiro, Brazil.

Identification of maternal Gγ(Aγδβ)0 thalassemia through retrospective reanalysis of prenatal cfDNA sequencing data.

The Application of Machine-Learning Algorithms for Multiclass Classification of Microcytic Anemia Revealed That a Minimum Required Number of Hematological Parameters Is Enough to Achieve High Diagnostic Accuracy.

Interferon dependent immune memory during HSV-1 neuronal latency via increased H3K9me3 and restriction by ATRX.

Co-Occurrence of Urogenital Anomalies and Congenital Heart Disease in a Child With Alpha-Thalassemia Mental Retardation Syndrome Associated With Chromosome 16 Abnormalities due to Partial Monosomy 16p13.3 and Partial Trisomy 16q22.1-q24.3.

Revisiting hemoglobin constant spring: molecular insights, pathophysiological mechanisms, and clinical perspectives.

Predicting the Double Heterozygotes of HbE and α-Thalassemia-1 (Southeast Asian Type) Using RapidMiner-Generated Hematologic Algorithm.

Hemoglobin suresnes combined with α0-thalassemia: Diagnostic challenges and insights from trio-based whole exome sequencing.

Cord Blood-Based Neonatal Screening for Hemoglobinopathies in Northern Tunisia.

Genotypic and hematological profiling of thalassemia in reproductive-age and pediatric populations.

Cost-Effectiveness Analysis of Different Prenatal Screening Strategies for the Prevention of Severe Thalassemia in Thailand.

Case Report: identification of a novel 9.159-kb deletion in a Chinese α-thalassemia family using single molecule real-time technology sequencing.

Unlocking Rare Diagnoses: The Essential Role of Molecular Techniques in Hemoglobin Agrinio. A Case Report.

Chromatin-associated DEK proteins maintain H3K27me3 balance and coordinate developmental transitions in plants.

Genetic Analysis and Clinical Relevance of HBA1:c.305T > C (Leu > Pro): A Novel Variant Linked to α-Thalassemia.

[Analysis of Thalassemia Gene Variants in the Wuhan Region].

Genotypic and phenotypic characterization of rare globin variants in Northern Guangxi, China.

Screening, genetic analysis, and clinical transfusion implications of thalassaemia and glucose-6-phosphate dehydrogenase deficiency in blood donors.

ATRX: From Chromatin Remodeling to Disease.

Utility of long-read sequencing to delineate a rare large deletion of beta-globin gene which escaped Sanger sequencing at prenatal diagnosis in a family clustered with hereditary persistence of fetal hemoglobin.

Genetic analysis of a fetus with mosaic trisomy 15 with false-negative result in prenatal amniotic fluid karyotype analysis.

Tackling the challenge of in utero blood exchange transfusion for fetal anemia at 15 weeks' gestation.

Catalog of 73 novel variants in thalassemia: discoveries and insights.

The values of the cardio-biparietal ratio and cardio-femur ratio in predicting homozygous α-thalassemia-1 fetuses in early and mid-pregnancy.

Novel serum autoantibodies against alpha thalassemia/mental retardation syndrome X-linked, a component of promyelocytic leukaemia nuclear bodies, in dermatomyositis.

A Diverse Genetic Landscape: Thalassemia Genotype Patterns in Myanmar and Cambodian Workers in Southern Thailand.

A novel 17.9 kb deletion of the beta-globin gene causing beta-thalassemia trait in a Danish male.

Influence of Alpha Thalassaemia on Hematological and Clinical Presentations in Patients of Sickle Cell-β-Thalassaemia with IVS I-5 (G→C) Mutation (HBB: C.20A > T/HBB: C.92 + 5G > C).

Genotypic Characterization of Thalassemia in Huadu District, Guangzhou, China: A Single-Center Retrospective Study.

Elevated haemoglobin A1c confounds thalassaemia diagnosis by lowering HbA2 levels.

Diagnostic Utility of a Multiplex PCR Assay in Detecting Common Mutations of the α-Globin Gene in α-Thalassemia.

Evaluating Dried Blood Spot and Dried Blood Matrix as Alternatives to Venipuncture for Diagnosing Haemoglobinopathies in Adults: A Mass Spectrometric Approach.

Identification of a novel 10.7 kb deletion (Nanning deletion; -ζ10.7 kb) in a Chinese female.

Machine learning improves detection of alpha thalassemia carriers compared to clinical features.

Utility of Molecular Sequencing and Hematologic Parameters for Diagnosis of α-Thalassemia: A Perspective of the National Reference Laboratory.

Prediction Models of IDH and ATRX Gene Status in Diffuse Gliomas Based on VASARI Features.

Transient Postpartum Paraparesis Mimicking Guillain-Barré Syndrome Following Labor Epidural Analgesia: A Case Report.

Alpha-Thalassemia Unmasked in a Patient With Sickle Cell Trait: A Case Report.

Genetic Profiling and frequencies of Modifiers in Transfusion-Dependent Thalassemia.

Hemoglobinopathies and iron deficiency among Northeast-Thai blood donors deferred for low hemoglobin.

Histopathologic and Molecular Evidence of Splenic Infarction Associated with Sickle Cell Trait: An Instructive Case in Central America.

Prevalence of double heterozygotes of HbE and α-thal 1 (SEA) type in pregnancies and their partners that received antenatal care at Chiangrai Prachanukroh Hospital and reevaluated the cut-offs for differentiation.

Epidemiological study of thalassemia in the Buyi population of Qiannan Prefecture, Guizhou Province, China based on third-generation sequencing.

Molecular Characterization of Three Novel Large Deletions Causing α0-Thalassemia.

ATRX cooperates with TOP2B for replication fork stability and DNA damage response through G-quadruplex regulation.

Genetic analysis of thalassemia in putian: comparative insights into mutation spectra with other global regions.

The diagnosis and clinical characterization of -α3.7/--SEA thalassemia patients: two cases report.

Lentiviral vectors for hematopoietic stem cell gene therapy restore α-globin expression in α-thalassemia red blood cells.

From CBC to clarity: Interpretable detection of beta-thalassemia carriers in imbalanced datasets.

Clinical and Laboratory Parameters in Iraqi Alpha-Thalassemia Pediatric Patients With Different Genetic Profiles, Basrah, Iraq: A Single-Center Study.

[Ethnic differences in genotype distribution of thalassemia between Han and Li populations in southern Hainan].

Clinical application study of a novel fully automatic erythrocyte osmotic fragility analysis system.

The ENERGIZE trial: Is mitapivat ready to take center stage in NTDT management?

[Genetic Differences of Thalassemia Gene Among Ethnic Groups in Hechi, Guangxi].

[Silent α-Thalassemia Complicated with the Alcohol-Induced Secondary Ring Sideroblastic Anemia].

Combined heterozygosity for the highly unstable variant hemoglobin Taybe, and α-thalassemia as a rare cause of hemolytic anemia.

A Genetically Confirmed Case of ATR-X Syndrome Without Alpha-Thalassemia: First Case Reported From Jordan.

Development of a low-cost and high-throughput LC-MS method for newborn screening of thalassemia and abnormal hemoglobin disorders.

Multiplex ligation-dependent probe amplification (MLPA) assay: a single centre experience of MLPA assay for alpha thalassaemia diagnosis.

Distribution of Hemoglobinopathy Disorders in Al-Kharj Province Based on Data from the Premarital Screening and Genetic Counseling Program.

Decoding Pancreatic Neuroendocrine Tumors: Molecular Profiles, Biomarkers, and Pathways to Personalized Therapy.

Clinical implications of expanded carrier screening for pregnancy-related care and individual health.

Prevention and control of thalassemia in Guangdong Province, Southern China: insights from an 11-year retrospective study.

Compound Heterozygous Hb Milledgeville With -α4.2 Thalassemia-A Rare and First Reported Cause of Primary Erythrocytosis in an Indian Family.

Newborn Screening for Hemoglobin Disorders.

Identification of a New δ chain hemoglobin Variant, Hb A2-Malay [δ46(CD5)Gly > Arg, HBD: C.139G > C;316-443A > G].

Late Graft Failure Identified by Persistently High Hemoglobin H Levels Post Transplant in a Patient With Alpha Thalassemia Major.

Capillary electrophoresis mis-anchoring in a case of Hb Hope with HbE.

Evaluation of stability and potential interference on the α-thalassaemia early eluting peak and immunochromatographic strip test for α-thalassaemia --SEA carrier screening.

Genetic modifiers of frequent vaso-occlusive hospitalizations among individuals with sickle cell disease (SCD).

Study on the diagnostic and differential value of thalassemia through combined blood routine examination and reticulocyte detection.

HbH Disease in an Elderly Man Due to Compound Heterozygosity for Deletional α-Thalassemia and Hb Dubai (HBA2:c.368A > T).

Sitosterolemia carrying both ABCG5 and HBA gene mutations: a case report and review of the literature.

Hematological analysis of alpha-thalassemia: A single-center, retrospective clinical study.

A Case of Severe Anemia in Pregnancy Treated With Traditional Chinese Medicine.

HbA1c levels in hemoglobin H disease.

Continuous-time random walk and fractional order calculus models histogram analysis of glioma biomarkers, including IDH1, ATRX, MGMT, and TERT, on differentiation.

Alternative Lengthening of Telomeres: The Need for ATRX Mutations Is Lineage-Dependent.

When Unstable Hemoglobin Lansing Interacts with Alpha Thalassemia Along with HbS: An Interesting Case with Unique Clinical Presentation.

Clinical and Genetic Predictors of Sickle Cell Nephropathy: A Global Systematic Review.

Long-term outcomes of kidney transplantation in a transfusion-dependent alpha-thalassemia patient.

Development and validation of mPCR-CEFA for detecting multiple deletion and non-deletion thalassemia genotypes.

Multiclass classification of thalassemia types using complete blood count and HPLC data with machine learning.

Factors influencing prenatal diagnosis of deletional hemoglobin H disease in thalassemia prevention and control program, Southern China.

Alpha-Thalassemia Caused by ααIVSI-1(AGGT> AGAT) (HBA1: c.95 + 1G > A) Mutation and its Combinations with Other Forms of Thalassemia or Hemoglobinopathy in Northern Thailand.

Hb Koya Dora: An Under-recognized Variant of Alpha Thalassemia in India.

Structural and clinical characterization of Hb Móstoles (HBA2:c.176A>G; p.His59Arg): a new unstable alpha-globin variant with thalassemic features.

Detection of Common α-Hemoglobin Variants in Thailand by Using Real-Time PCR with High Resolution Melting Analysis.

Phase separated condensates of ATRX regulate neural progenitor identity.

Morphologic and Electrophoretic Features of Hemoglobin Bart's Hydrops Fetalis.

Analysis of clinicopathological and immunohistochemical features of pheochromocytoma/paraganglioma.

Identification of a novel complex variant in a patient involving the α-globin gene cluster by third-generation sequencing.

A novel targeted long-read sequencing-based preimplantation genetic testing method for α-thalassemia (tlrPGT-α-thal).

Research Parameters in RBC Indices Shows Vital Importance in Screening α-Thalassemia.

HBA2: C.4delG: A Novel Frameshift Mutation Causing α+-Thalassemia Found in a Chinese Family.

Consideration of immunochromatographic strip positive results for screening of alpha-thalassemia in elevated hemoglobin F samples.

Role of Amide Proton Transfer Weighted MRI in Predicting MGMTp Methylation Status, p53-Status, Ki-67 Index, IDH-Status, and ATRX Expression in WHO Grade 4 High Grade Glioma.

Iron overload and morbidities in Chinese with non-transfusion-dependent thalassaemia.

International Consensus Guideline on the Diagnosis and Management of Endocrine Complications of β and α Thalassemia in Children and Adolescents.

Mitapivat in adults with non-transfusion-dependent α-thalassaemia or β-thalassaemia (ENERGIZE): a phase 3, international, randomised, double-blind, placebo-controlled trial.

Enhancing thalassemia carrier detection: Advancing genetic screening strategies in prenatal care.

Molecular epidemiology and hematological thresholds for αβ-thalassemia: a retrospective cohort study in the Huizhou region of southern China.

Advanced molecular approaches to thalassemia disorder and the selection of molecular-level diagnostic testing in resource-limited settings.

The 1357 bp deletion in β-thalassemia: molecular profiling and hematological characterization in a Guangxi cohort.

A Novel Large Deletion Including the Major Regulatory Element Compounded with SEA Deletion Causing Hydrops-Fetalis-Syndrome.

Genotype Distribution and Clinical Characteristics of Thalassemia Patients Needing Transfusion in Yangjiang, Western Guangdong.

Revealing silent alpha-thalassemia: characterization of novel HBA1 deletion and missense mutation in Tunisian families.

Clinical variability in individuals with ATR-X syndrome in the Netherlands.

MDPNet: a dual-path parallel fusion network for multi-modal MRI glioma genotyping.

Cognitive decline in an adult with ATR-16 syndrome due to an unbalanced translocation between 11p15.5 and 16p13.3: a case report.

Misdiagnosis of α-Thalassemia Heterozygotes as Homozygotes Due to Base Mutations in the Primer Binding Region.

Prevalence of common autosomal recessive and X-linked conditions in pregnant women in Vietnam: a cross-sectional study.

Case Report: Acute hepatitis A virus infection presenting with direct antiglobulin test-negative autoimmune hemolytic anemia and α-thalassemia trait.

ATRX ADD domain is a versatile module for recognizing macroH2A, H3, and beyond.

Alpha thalassemia/mental retardation X-linked (ATRX) protein expression in human pituitary neuroendocrine tumours and its reported correlation to prognosis and clinical outcomes: A systematic review.

Hemoglobin Disorders Associated with Neurological Impairment: First Report of ATR-X Syndrome and Recessive Congenital Methemoglobinemia Type II in Tunisia.

Accuracy of Red Blood Cell Parameters in Predicting α0-Thalassemia Trait Among Non-Anemic Males.

[Delayed physical growth and related factors in pediatric patients with transfusion-dependent thalassemia].

Survival and thalassaemia-related complications in HbE/beta-thalassaemia and alpha-thalassaemia: A 10-year longitudinal study in Thailand.

Snrnp25 is a candidate for the peri-implantation lethal phenotype of the Hba deletions.

Long-term efficacy and safety of mitapivat in non-transfusion-dependent α- or β-thalassaemia: An open-label phase 2 study.

Alpha+ Thalassemia in Northwestern Tanzania: Molecular and Hematological Insights From Newborn Screening.

Measures of cellular oxidative damage following vitamin E supplementation in young patients with transfusion-dependent thalassemia: a double-blind randomized controlled trial.

Pipeline embolization in patients with hemoglobinopathies: A cohort study.

The diagnostic and prediction performance of MR diffusion kurtosis imaging in the glioma molecular classification: a systematic review and meta-analysis.

[Clinical feature and genetic analysis of a case of X-linked alpha-thalassemia mental retardation syndrome neonate caused by ATRX gene variant and literature review].

[Analysis of hematological characteristics of patients with three common deletional β-thalassemias and concomitant α-thalassemia in Huizhou, Guangdong province].

Oncocytic subtype of well differentiated neuroendocrine tumor: clinicopathologic and molecular associations of a cohort diagnosed on fine needle aspiration (FNA).

Molecular Characterization and Clinical Outcomes of Pancreatic Neuroendocrine Neoplasms Harboring PAK4-NAMPT Alterations.

Prenatal diagnosis and management of fetal anemia caused by hemoglobin H-Adana: A case report.

[Analysis of the Results of Thalassemia Gene Screening in 9 334 Cases in Guiyang Region].

Characterization of HbH Disease Caused by Compound Heterozygotes α+-Thalassemia 3.7 kb Deletion and a Large Novel α0-Thalassemia Deletion.

Novel variants of the ATRX gene identified in MYCN non-amplified Neuroblastoma in Brazilian patients.

Clinical experience of the expanded carrier screening for recessive genetic diseases in a large cohort study in Southern central China.

From pathology to therapy: A comprehensive review of ATRX mutation related molecular functions and disorders.

A comprehensive case study of deep learning on the detection of alpha thalassemia and beta thalassemia using public and private datasets.

Evaluated NSUN3 in reticulocytes from HbH-CS disease that reflects cellular stress in erythroblasts.

A rare -α27.6 deletion compounded with the hemoglobin constant spring mutation identified in a Chinese couple.

Development of Polygenic Risk Score for Persistent Albuminuria in Children and Adults With Sickle Cell Anemia.

Isocitrate dehydrogenase-mutant astrocytoma in persons aged 55 years and older: Survival differences versus the young.

Middle cerebral artery velocity time integral as a predictor of fetal anemia using fetal hemoglobin Bart's disease as study model.

Detection of a novel large fragment deletion in the alpha-globin gene cluster using the CNVplex technology.

Prevalence and Detection of Novel Thalassemia Variant hemoglobin J in Extensive Tharu Population.

Detection of Hemoglobin Constant Spring by Capillary Electrophoresis and High-performance Liquid Chromatography: A Study in Kelantan, Malay.

Alpha Thalassemia Major: From a Lethal to a Treatable Condition.

Evaluation of haemoglobin constant spring phenotypes and their haematological characteristics among high school students in Terengganu, Malaysia: A single - centred study.

Large-Scale Analysis of the Thalassemia Mutation Spectrum in Guizhou Province, Southern China, Using Third-Generation Sequencing.

Prevalence of Hemoglobinopathies Among the Kurdish Population in Zakho City, Kurdistan Region, Iraq.

Carrier Frequency of Autosomal Recessive Diseases in a Population Attending a Human Fertility Institute in Colombia.

Targeted long-read sequencing facilitates effective carrier screening for complex monogenic diseases including spinal muscular atrophy, α-/β-thalassemia, 21-hydroxylase deficiency, and fragile-X syndrome.

Prevalence and molecular spectrum of thalassemia in infertile population among different ethnic groups in Hainan Province, China.

Alpha-globin gene cluster haplotypes and D1S80, D17S5, and TPO VNTR polymorphisms among four ethnic populations from lower northeastern Thailand.

Diagnosis and Treatment of Alpha Thalassemia Major.

Analysis of thalassemia genotypes and HbA2 test results in pregnant women in Shenzhen, China.

Targeted liquid biopsy for brain tumors.

Establishment of an α-thalassemia mouse model through fetal liver cell transplantation and analysis of hematological parameters.

The impact of various types of α-thalassemia on perinatal complications and pregnancy outcomes in pregnant women.

[Hematological Characteristics of Neonates with Abnormal Hemoglobin and Their Parents in Guangzhou Area].