thalassemia
HP:0001878 · SaudiVarKB evidence summary derived from retained literature mentions.
397Phenotype mentions
100Publications
45Associated gene records
33Associated variant records
Associated gene records
Co-mentioned in the same publications| Gene | Identifier / context | Articles | Mentions |
|---|---|---|---|
| G6PD | HGNC:4057 | 9 | 9 |
| HBB | HGNC:4827 | 6 | 6 |
| HBA1 | HGNC:4823 | 5 | 5 |
| HBA2 | HGNC:4824 | 5 | 5 |
| BCL11A | HGNC:13221 | 3 | 3 |
| SIRT1 | HGNC:14929 | 2 | 2 |
| PGD | HGNC:8891 | 2 | 2 |
| JAK2 | HGNC:6192 | 2 | 2 |
| HFE | HGNC:4886 | 2 | 2 |
| ATRX | HGNC:886 | 2 | 2 |
| CXCL9 | HGNC:7098 | 1 | 1 |
| NLRP3 | HGNC:16400 | 1 | 1 |
| CD34 | HGNC:1662 | 1 | 1 |
| LPL | HGNC:6677 | 1 | 1 |
| AR | HGNC:644 | 1 | 1 |
| TG | HGNC:11764 | 1 | 1 |
| KLF1 | HGNC:6345 | 1 | 1 |
| CD19 | HGNC:1633 | 1 | 1 |
| CRP | HGNC:2367 | 1 | 1 |
| CHI3L1 | HGNC:1932 | 1 | 1 |
| NPNT | HGNC:27405 | 1 | 1 |
| PM20D1 | HGNC:26518 | 1 | 1 |
| LGR6 | HGNC:19719 | 1 | 1 |
| MYH15 | HGNC:31073 | 1 | 1 |
| RESF1 | HGNC:25559 | 1 | 1 |
| MALAT1 | HGNC:29665 | 1 | 1 |
| VDR | HGNC:12679 | 1 | 1 |
| ACKR1 | HGNC:4035 | 1 | 1 |
| HBG2 | HGNC:4832 | 1 | 1 |
| PAM | HGNC:8596 | 1 | 1 |
| MIAT | HGNC:33425 | 1 | 1 |
| CXCL10 | HGNC:10637 | 1 | 1 |
| AHSP | HGNC:18075 | 1 | 1 |
| CETP | HGNC:1869 | 1 | 1 |
| CXCL1 | HGNC:4602 | 1 | 1 |
| CXCL12 | HGNC:10672 | 1 | 1 |
| UGT1A1 | HGNC:12530 | 1 | 1 |
| CDA | HGNC:1712 | 1 | 1 |
| HMGB1 | HGNC:4983 | 1 | 1 |
| ANGPTL4 | HGNC:16039 | 1 | 1 |
| PNPLA3 | HGNC:18590 | 1 | 1 |
| VCAM1 | HGNC:12663 | 1 | 1 |
| TM6SF2 | HGNC:11861 | 1 | 1 |
| RXRA | HGNC:10477 | 1 | 1 |
| A1CF | HGNC:24086 | 1 | 1 |
Associated variant records
Co-mentioned in the same publications| Variant | Identifier / context | Articles | Mentions |
|---|---|---|---|
| H63D | H63D | 2 | 2 |
| C282Y | C282Y | 2 | 2 |
| rs880633 | rs880633 | 1 | 1 |
| rs35132891 | rs35132891 | 1 | 1 |
| rs10425763 | rs10425763 | 1 | 1 |
| rs7518979 | rs7518979 | 1 | 1 |
| rs75658797 | rs75658797 | 1 | 1 |
| rs4299484 | rs4299484 | 1 | 1 |
| rs3207618 | rs3207618 | 1 | 1 |
| c.-67T>C | c.-67T>C | 1 | 1 |
| rs2814778 | rs2814778 | 1 | 1 |
| IVS-1-110 | IVS-1-110 | 1 | 1 |
| c.252C>T | c.252C>T | 1 | 1 |
| c.281G>T | c.281G>T | 1 | 1 |
| c.316-183_316-168del | c.316-183_316-168del | 1 | 1 |
| c.315+241T>A | c.315+241T>A | 1 | 1 |
| c.315+376T>C | c.315+376T>C | 1 | 1 |
| c.316-114C>G | c.316-114C>G | 1 | 1 |
| c.315+208T>G | c.315+208T>G | 1 | 1 |
| p.H63D | p.H63D | 1 | 1 |
| p.C282Y | p.C282Y | 1 | 1 |
| IVS1 | IVS1 | 1 | 1 |
| c.623delA | c.623delA | 1 | 1 |
| c.848T>C | c.848T>C | 1 | 1 |
| E121Q | E121Q | 1 | 1 |
| W15X | W15X | 1 | 1 |
| rs4671393 | rs4671393 | 1 | 1 |
| rs1427407 | rs1427407 | 1 | 1 |
| rs11886868 | rs11886868 | 1 | 1 |
| rs9399137 | rs9399137 | 1 | 1 |
| rs4701 | rs4701 | 1 | 1 |
| rs7041 | rs7041 | 1 | 1 |
| rs4588 | rs4588 | 1 | 1 |
Associated population records
Co-mentioned in the same publicationsSupporting publications
100 records- 2026CRISPR/Cas9 System as a Promising Therapy in Thalassemia and Sickle Cell Disease: A Systematic Review of Clinical Trials.Molecular biotechnology1 mentions
- 2026Public awareness, knowledge and attitudes toward thalassemia and its screening in five high-prevalence countries: a cross-sectional study based on an online survey.BMC public health1 mentions
- 2026Explainable AI framework for improved Thalassemia mental health classification and feature selection.PloS one1 mentions
- 2026Sustainable and interpretable heart disease prediction: a clinical decision support approach for biomedical healthcare applications.Scientific reports1 mentions
- 2026Beta-Thalassemia Major Complicated by Streptococcal Toxic Shock Syndrome: A Rare Case of Survival and Successful Management.Case reports in hematology1 mentions
- 2026Systematic Review of Non-Coding Genomic Variants in Globin and Non-Globin Clusters and Their Impact on Phenotypic Severity in Thalassemia and Sickle Cell Disease.Journal of clinical medicine1 mentions
- 2026Lack of knowledge of thalassemia among non-medical university students in Saudi Arabia: a cross-sectional study.Frontiers in public health1 mentions
- 2026Frequency of Alloimmunization in Patients on Regular Blood Transfusion in Riyadh, Saudi Arabia: A Multicenter Retrospective Study.Journal of clinical medicine1 mentions
- 2026Distribution of Abnormal Hemoglobins in Saudi Arabia: Analysis of Private Sector Laboratory Data.Journal of epidemiology and global health1 mentions
- 2026Beyond Diagnosis: A Systematic Review of Artificial Intelligence and Deep Learning in Monitoring Iron Overload and Organ Toxicity in Beta-Thalassemia.Hemoglobin1 mentions
- 2026Genotype-phenotype correlation in alpha-thalassemia: predicting genetic subgroups via laboratory parameters.Frontiers in medicine1 mentions
- 2026Establishment of the first nationwide registry for inherited hemoglobin and blood-related disorders (IHBD) in Saudi Arabia: design and clinical evaluation.BMC public health1 mentions
- 2026CardioMetaHybridOptimizer as a behaviorally adaptive multi-phase metaheuristic framework for interpretable cardiovascular disease diagnosis.BMC bioinformatics1 mentions
- 2025Gut microbiota-derived TMAO and SIRT1/HMGB1 Axis: unveiling mechanisms of renal impairment in beta-thalassemia major.Pediatric research1 mentions
- 2025Early Engraftment and Immune Kinetics Following Allogeneic Transplant Using a Novel Reduced-Toxicity Transplant Strategy in Children/Adolescents with High-Risk Transfusion-Dependent Thalassemia: Early Results of the ThalFAbS Trial.Transplantation and cellular therapy1 mentions
- 2025Pregnancy, delivery, and neonatal outcomes among women with beta-thalassemia major: a population-based study of a large US database.Archives of gynecology and obstetrics1 mentions
- 2025Successful Second Hematopoietic Stem Cell Transplantation Using Total Body Irradiation-Based Conditioning for Children With Transfusion-Dependent Beta-Thalassemia.Journal of hematology1 mentions
- 2025Pelvic extramedullary hematopoiesis with life-threatening hemorrhage: a case report.International journal of emergency medicine1 mentions
- 2025Combinatorial approach to treat iron overload cardiomyopathy in pediatric patients with thalassemia-major: A systematic review and meta-analysis.World journal of cardiology1 mentions
- 2025A Meta Analysis of RBC Alloimmunization in Transfused Sickle Cell and Thalassemia Patients in Saudi Arabia.Clinical laboratory1 mentions
- 2025Evaluation of haemoglobin constant spring phenotypes and their haematological characteristics among high school students in Terengganu, Malaysia: A single - centred study.Saudi medical journal1 mentions
- 2025A comprehensive case study of deep learning on the detection of alpha thalassemia and beta thalassemia using public and private datasets.Scientific reports1 mentions
- 2025Assessment of periodontitis as a predictive sign of occurrence of type-II diabetes mellitus.The Saudi dental journal1 mentions
- 2025Unlocking the potential: advancements and applications of gene therapy in severe disorders.Annals of medicine1 mentions
- 2025Optical coherence tomography findings in beta-thalassemia major: a systematic review and Meta-analysis.International journal of ophthalmology1 mentions
- 2025International Consensus Guideline on the Diagnosis and Management of Endocrine Complications of β and α Thalassemia in Children and Adolescents.Hormone research in paediatrics1 mentions
- 2025The direct costs of transfusion-dependent beta-thalassemia in Saudi Arabia: A cost of illness analysis study.Medicine1 mentions
- 2025Distribution of Hemoglobinopathy Disorders in Al-Kharj Province Based on Data from the Premarital Screening and Genetic Counseling Program.Medicina (Kaunas, Lithuania)1 mentions
- 2025Assessment of health-related quality of life in transfusion dependent beta thalassemia.Scientific reports1 mentions
- 2025Predisposing Factors to Infections in Thalassemia Syndrome Patients.Mediterranean journal of hematology and infectious diseases1 mentions
- 2025Machine and deep learning for MRI-based quantification of liver iron overload: a systematic review and meta-analysis.Radiologie (Heidelberg, Germany)1 mentions
- 2025Factors affecting marriage decisions among couples with sickle cell or beta-thalassemia traits.Journal of Taibah University Medical Sciences1 mentions
- 2025Radiologic Evaluation of Paranasal Sinuses in Sickle Cell Anemia and Thalassemia: Case-Control Study.Laryngoscope investigative otolaryngology1 mentions
- 2025Genetic modifiers of response to thalidomide in transfusion-dependent beta-thalassemia patients: a whole-exome sequence analysis.PeerJ1 mentions
- 2025Ocular Biometric Findings in Thalassemia Major: A Systematic Review and Meta-Analysis.Journal of current ophthalmology1 mentions
- 2025Interpretable machine learning models for beta thalassemia prediction: an explainable AI approach for smart healthcare 5.0.Frontiers in medicine1 mentions
- 2024CRISPR-Cas9 system: a novel and promising era of genotherapy for beta-hemoglobinopathies, hematological malignancy, and hemophilia.Annals of hematology1 mentions
- 2024Red blood cell alloimmunization in blood transfusion-dependent β thalassemia major patients in Sana'a City-Yemen.Scientific reports1 mentions
- 2024Cephalometric analysis of patients with beta thalassemia receiving fetal hemoglobin induction therapy.Journal of Taibah University Medical Sciences1 mentions
- 2024Targeting SIRT1, NLRP3 inflammasome, and Nrf2 signaling with chrysin alleviates the iron-triggered hepatotoxicity in rats.Toxicology1 mentions
- 2024Idiopathic Thrombocytosis in Alpha Thalassemia Trait Patient.Annals of clinical and laboratory science1 mentions
- 2024Knowledge, Attitude, Motivators, and Barriers to Blood Donation Among Adults in Al-Qunfudah Governorate, Saudi Arabia: A Cross-Sectional Study.Cureus1 mentions
- 2024Factors Influencing Blood Donation among Young Saudi Arabian Adults: A Cross-Sectional Study to Inform Donor Recruitment and Retention Programs.Annals of clinical and laboratory science1 mentions
- 2024Bone mineral density in adult thalassaemias: a retrospective longitudinal study.Nuclear medicine communications1 mentions
- 2024Red Cell Alloimmunisation Among Sickle Cell Disease and Thalassemia Patients Following Rh- and K-Matched Red Cell Transfusion in Southwestern Saudi Arabia: A Multicenter Study.International journal of general medicine1 mentions
- 2024Frequency of Duffy, Kidd, Lewis, and Rh Blood Group Antigens and Phenotypes Among Donors in the Al-Ahsa Region, Saudi Arabia.Clinical laboratory1 mentions
- 2024Early Detection of Renal Complication in Children With Sickle Cell Disease: A Single Center Prospective Study.Cureus1 mentions
- 2024Diagnostic test performance of the Mentzer index in evaluating Saudi children with microcytosis.Frontiers in medicine1 mentions
- 2024Urgent call for compulsory premarital screening: a crucial step towards thalassemia prevention in Bangladesh.Orphanet journal of rare diseases1 mentions
- 2024The Incidences of KEL Blood Group Antigens and Phenotypes in Southwestern Saudi Arabia.International journal of general medicine1 mentions
- 2024Hemoglobin J-Auckland: a clinically silent low oxygen affinity variant presenting with persistent asymptomatic hypoxemia at high altitude.Hematology (Amsterdam, Netherlands)1 mentions
- 2024Cauda equina syndrome with beta thalassemia: a case report.Spinal cord series and cases1 mentions
- 2024Prevalence and screening of hemoglobinopathies and glucose-6-phosphate dehydrogenase deficiency in Yemeni blood donors.Hematology (Amsterdam, Netherlands)1 mentions
- 2024Associations between BCL11A and HBS1L-MYB polymorphisms and thalassemia risk.Journal of Taibah University Medical Sciences1 mentions
- 2024Assessing the Quality of Life of Parents of Children With Thalassemia: A Cross-Sectional Study in Medina City, Saudi Arabia.Cureus1 mentions
- 2024Nationwide survey on awareness of consanguinity and genetic diseases in Saudi Arabia: challenges and potential solutions to reduce the national healthcare burden.Human genomics1 mentions
- 2024Prevalence of dental caries, oral health status, malocclusion status, and dental treatment needs in thalassemic children: A cross-sectional study.Journal of family medicine and primary care1 mentions
- 2024Barriers to Blood Donation: Donor Deferrals in a Saudi Hospital Setting.Annals of clinical and laboratory science1 mentions
- 2023Strategic priorities for hematopoietic stem cell transplantation in the EMRO region.Hematology/oncology and stem cell therapy1 mentions
- 2023Development of a Thalassemia International Prognostic Scoring System (TIPSS).Blood cells, molecules & diseases1 mentions
- 2023Genetic variant of endothelial protein C receptor genes and its serum level in B thalassemic children.Expert review of hematology1 mentions
- 2023The effect of different types of anemia on HbA1c levels in non-diabetics.BMC endocrine disorders1 mentions
- 2023Treatment of dental and orthodontic complications in thalassaemia.The Cochrane database of systematic reviews1 mentions
- 2023Prevalence of Consanguineous Marriage among Saudi Citizens of Albaha, a Cross-Sectional Study.International journal of environmental research and public health1 mentions
- 2023The role of nurses to control beta thalassemia disease in Indonesia: A perspective.Journal of Taibah University Medical Sciences1 mentions
- 2023Computational modeling and in vitro evaluation identified natural product-Z218 as a novel Janus kinase 2 (JAK2) inhibitor to combat β-thalassemia.Biotechnology and applied biochemistry1 mentions
- 2023Optimized serum ferritin prediction of iron overload in transfusion-dependent thalassemia: likelihood ratio and age-adjustment approach.Annals of Saudi medicine1 mentions
- 2023Red Blood Cell Alloimmunization and Autoimmunization in Blood Transfusion-Dependent Sickle Cell Disease and β-Thalassemia Patients in Al-Ahsa Region, Saudi Arabia.Anemia1 mentions
- 2023Patient preference for deferasirox film-coated versus dispersible tablet formulation: a sequential-design phase 2 study in patients with thalassemia.Annals of hematology1 mentions
- 2023Psychosocial burden in transfusion dependent beta-thalassemia patients and its impact on the quality of life and the problem of dignity.Journal of Taibah University Medical Sciences1 mentions
- 2023Challenges of having a child with thalassemia in Pakistan: A phenomenological study.Journal of pediatric nursing1 mentions
- 2023A stepwise diagnostic approach for undiagnosed Anemia in children: A model for low-middle income country.Blood cells, molecules & diseases1 mentions
- 2023Correlation of Transfusion Dependence and Its Associated Sequelae to Hematological and Biochemical Parameters in Patients With Sickle Cell Disease and Beta Thalassemia Major in Khobar: A Retrospective Study.Cureus1 mentions
- 2023Could the Crosstalk Between Myeloid-Derived-Suppressor Cells and Regulatory T Cells Have a Role in Beta-Thalassemia?Journal of hematology1 mentions
- 2023Therapeutic benefits of prophetic medicine remedies in treating hematological diseases (A review article).American journal of blood research1 mentions
- 2023Oral health and caries risk profile assessment using the Cariogram in thalassemia patients with or without splenectomy: A cross-sectional study.Dental and medical problems1 mentions
- 2023Unusual presentation of tractional retinal detachment in beta thalassemia minor.American journal of ophthalmology case reports1 mentions
- 2023Molecular patterns of alpha-thalassemia in the kingdom of Saudi Arabia: identification of prevalent genotypes and regions with high incidence.Thrombosis journal1 mentions
- 2023Predicting Thalassemia Using Feature Selection Techniques: A Comparative Analysis.Diagnostics (Basel, Switzerland)1 mentions
- 2023Spinal cord compression secondary to intraspinal extramedullary hematopoiesis.Journal of family & community medicine1 mentions
- 2023Renal outcomes in pediatric patients with sickle cell disease: a single center experience in Saudi Arabia.Frontiers in pediatrics1 mentions
- 2022Evaluation of the Significance of Tear Ferning Patterns in beta-Thalassemia Patients.Klinische Monatsblatter fur Augenheilkunde1 mentions
- 2022Prevalence of and risk factors for obstructive sleep apnea in children with sickle cell: a multicentric cross sectional study.Annals of hematology1 mentions
- 2022Deferiprone vs deferoxamine for transfusional iron overload in SCD and other anemias: a randomized, open-label noninferiority study.Blood advances1 mentions
- 2022Busulfan-fludarabine- or treosulfan-fludarabine-based myeloablative conditioning for children with thalassemia major.Annals of hematology1 mentions
- 2022Evaluation of Tear Evaporation Rate in Patients with Diabetes Using a Hand-Held Evaporimeter.Healthcare (Basel, Switzerland)1 mentions
- 2022Phenotypic variation in sickle cell disease: the role of beta globin haplotype, alpha thalassemia, and fetal hemoglobin in HbSS.Expert review of hematology1 mentions
- 2022Upregulation of Nrf2 signaling and suppression of ferroptosis and NF-κB pathway by leonurine attenuate iron overload-induced hepatotoxicity.Chemico-biological interactions1 mentions
- 2022Protective potential of royal jelly against hydroxyurea -induced hepatic injury in rats via antioxidant, anti-inflammatory, and anti-apoptosis properties.PloS one1 mentions
- 2022Establishment of pregnant-specific intervals for hemoglobin (Hb) A2, HbF and cut-off points for HbA2 for thalassemia in Chongqing, China.Saudi medical journal1 mentions
- 2022Red Cell Alloimmunization and Autoimmunization Among Sickle Cell Disease and Thalassemia Patients in Jazan Province, Saudi Arabia.International journal of general medicine1 mentions
- 2022Knowledge and attitude of Engaged and Recently Married Couples Toward Premarital Screening: A Cross-Sectional Study.Inquiry : a journal of medical care organization, provision and financing1 mentions
- 2022A Smart Chatbot for Interactive Management in Beta Thalassemia Patients.International journal of telemedicine and applications1 mentions
- 2022Methods for Improving the Variance Estimator of the Kaplan-Meier Survival Function, When There Is No, Moderate and Heavy Censoring-Applied in Oncological Datasets.Frontiers in public health1 mentions
- 2022Splenectomy perspective for non-malignant hematological disorders: A cross-sectional study in the Eastern Province of KSA.Journal of Taibah University Medical Sciences1 mentions
- 2022Al-hijamah (the triple S treatment of prophetic medicine) significantly increases CD4/CD8 ratio in thalassemic patients via increasing TAC/MDA ratio: a clinical trial.American journal of blood research1 mentions
- 2022Cross-talk between PPARγ, NF-κB, and p38 MAPK signaling mediates the ameliorating effects of bergenin against the iron overload-induced hepatotoxicity.Chemico-biological interactions1 mentions
- 2022Prevalence of anemia in pre-school tribal children with reference to parasitic infections and nutritional impact.Journal of Taibah University Medical Sciences1 mentions
- 2022Non-Transfusion-Dependent Thalassemia: A Panoramic Review.Medicina (Kaunas, Lithuania)1 mentions
- 2022Red Blood Cell Alloimmunization in Pediatric group with Beta Thalassemia: A Five-Year Experience.Global pediatric health1 mentions