sickle cell disease
HP:0001878 · 603903 · SaudiVarKB evidence summary derived from retained literature mentions.
823Phenotype mentions
100Publications
50Associated gene records
50Associated variant records
Associated gene records
Co-mentioned in the same publications| Gene | Identifier / context | Articles | Mentions |
|---|---|---|---|
| HBB | HGNC:4827 | 12 | 12 |
| BCL11A | HGNC:13221 | 12 | 12 |
| G6PD | HGNC:4057 | 12 | 12 |
| CD34 | HGNC:1662 | 5 | 5 |
| MTHFR | HGNC:7436 | 4 | 4 |
| HBG2 | HGNC:4832 | 4 | 4 |
| HBA1 | HGNC:4823 | 3 | 3 |
| HBA2 | HGNC:4824 | 3 | 3 |
| KLF1 | HGNC:6345 | 2 | 2 |
| OR51V1 | HGNC:19597 | 2 | 2 |
| OR52A5 | HGNC:19580 | 2 | 2 |
| OR51B5 | HGNC:19599 | 2 | 2 |
| VEGFA | HGNC:12680 | 2 | 2 |
| IMPACT | HGNC:20387 | 2 | 2 |
| MPL | HGNC:7217 | 2 | 2 |
| ANTXR1 | HGNC:21014 | 2 | 2 |
| UGT1A1 | HGNC:12530 | 2 | 2 |
| ENPP1 | HGNC:3356 | 1 | 1 |
| NF1 | HGNC:7765 | 1 | 1 |
| DIAPH1 | HGNC:2876 | 1 | 1 |
| CYP2D6 | HGNC:2625 | 1 | 1 |
| UGT2B7 | HGNC:12554 | 1 | 1 |
| COMT | HGNC:2228 | 1 | 1 |
| OPRM1 | HGNC:8156 | 1 | 1 |
| OR52A1 | HGNC:8318 | 1 | 1 |
| OR51S1 | HGNC:15204 | 1 | 1 |
| SIDT2 | HGNC:24272 | 1 | 1 |
| CADM3 | HGNC:17601 | 1 | 1 |
| CRP | HGNC:2367 | 1 | 1 |
| HMOX1 | HGNC:5013 | 1 | 1 |
| CDC42 | HGNC:1736 | 1 | 1 |
| ARG2 | HGNC:664 | 1 | 1 |
| CYP2C19 | HGNC:2621 | 1 | 1 |
| RUNX3 | HGNC:10473 | 1 | 1 |
| LDLR | HGNC:6547 | 1 | 1 |
| PTX3 | HGNC:9692 | 1 | 1 |
| CCR5 | HGNC:1606 | 1 | 1 |
| APOL1 | HGNC:618 | 1 | 1 |
| OR51A1P | HGNC:8316 | 1 | 1 |
| OR51E2 | HGNC:15195 | 1 | 1 |
| OR52K1 | HGNC:15222 | 1 | 1 |
| OR52K2 | HGNC:15223 | 1 | 1 |
| OR52T1P | HGNC:15236 | 1 | 1 |
| OLFM5P | HGNC:51927 | 1 | 1 |
| ANKRD26 | HGNC:29186 | 1 | 1 |
| SERPINC1 | HGNC:775 | 1 | 1 |
| ADAMTS13 | HGNC:1366 | 1 | 1 |
| PLSCR4 | HGNC:16497 | 1 | 1 |
| F5 | HGNC:3542 | 1 | 1 |
| CD69 | HGNC:1694 | 1 | 1 |
Associated variant records
Co-mentioned in the same publications| Variant | Identifier / context | Articles | Mentions |
|---|---|---|---|
| G1691A | G1691A | 1 | 1 |
| rs10483801 | rs10483801 | 1 | 1 |
| rs4895441 | rs4895441 | 1 | 1 |
| rs4986893 | rs4986893 | 1 | 1 |
| rs4244285 | rs4244285 | 1 | 1 |
| rs3711358 | rs3711358 | 1 | 1 |
| C677T | C677T | 1 | 1 |
| rs1801133 | rs1801133 | 1 | 1 |
| rs333 | rs333 | 1 | 1 |
| rs60910145 | Rs60910145 | 1 | 1 |
| rs6025 | rs6025 | 1 | 1 |
| rs1799963 | rs1799963 | 1 | 1 |
| rs35390334 | rs35390334 | 1 | 1 |
| rs331532 | rs331532 | 1 | 1 |
| rs317777 | rs317777 | 1 | 1 |
| rs147062602 | rs147062602 | 1 | 1 |
| rs372091 | rs372091 | 1 | 1 |
| rs139341092 | rs139341092 | 1 | 1 |
| rs76076035 | rs76076035 | 1 | 1 |
| rs5006884 | rs5006884 | 1 | 1 |
| rs353988334 | rs353988334 | 1 | 1 |
| rs14788626882 | rs14788626882 | 1 | 1 |
| rs49188823 | rs49188823 | 1 | 1 |
| rs139349992 | rs139349992 | 1 | 1 |
| rs73395847 | rs73395847 | 1 | 1 |
| rs1368823 | rs1368823 | 1 | 1 |
| rs8888834548 | rs8888834548 | 1 | 1 |
| rs1455957 | rs1455957 | 1 | 1 |
| rs6505162 | rs6505162 | 1 | 1 |
| rs7482144 | rs7482144 | 1 | 1 |
| rs3834466 | rs3834466 | 1 | 1 |
| rs28440105 | rs28440105 | 1 | 1 |
| rs10128556 | rs10128556 | 1 | 1 |
| rs968857 | rs968857 | 1 | 1 |
| P213S | P213S | 1 | 1 |
| C807T | C807T | 1 | 1 |
| G20210A | G20210A | 1 | 1 |
| rs2071746 | rs2071746 | 1 | 1 |
| rs75853687 | rs75853687 | 1 | 1 |
| p.Arg987Ter | p.Arg987Ter | 1 | 1 |
| p.Asp36Tyr | p.Asp36Tyr | 1 | 1 |
| p.Gly140Ser | p.Gly140Ser | 1 | 1 |
| p.Arg284Ter | p.Arg284Ter | 1 | 1 |
| p.Pro106Leu | p.Pro106Leu | 1 | 1 |
| rs4527238 | rs4527238 | 1 | 1 |
| rs35685045 | rs35685045 | 1 | 1 |
| rs4025935 | rs4025935 | 1 | 1 |
| rs71748309 | rs71748309 | 1 | 1 |
| rs833061 | rs833061 | 1 | 1 |
| rs699947 | rs699947 | 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 biotechnologyPubMed ↗
- 2026Are CT scans of the sinuses before stem cell transplantations necessary among patients with sickle cell disease who underwent MRI?The neuroradiology journalPubMed ↗
- 2026Palliative care needs of adults severely affected by sickle cell disease: A mixed-methods systematic review.International journal of nursing studiesPubMed ↗
- 2026A Combination of Plerixafor and Filgrasting Promotes Successful CD34+ Cell Collection for CRISPR/Cas9 Therapy in Sickle Cell Disease Patients With Insufficient Response to Plerixafor Alone.American journal of hematologyPubMed ↗
- 2026"Does the dose of hydroxyurea correlate with shorter hospital stay and higher fetal hemoglobin levels in patients with sickle cell disease?".Future science OAPubMed ↗
- 2026A Retrospective Analysis of Blood Component Utilization and Transfusion-Related Factors in a Diverse Patient Population.Healthcare (Basel, Switzerland)PubMed ↗
- 2026Magnitude of Involvement of Peripheral Nervous System in Sickle Cell Anemia Patients in Vaso-Occlusive Crisis.Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood TransfusionPubMed ↗
- 2026Gene therapy acceptance in a high-consanguinity sickle cell disease population: bridging genetic literacy to therapeutic innovation in Saudi Arabia.Experimental hematologyPubMed ↗
- 2026Pharmacogenomics and Opioid Efficacy in Sickle Cell Disease.Medicina (Kaunas, Lithuania)PubMed ↗
- 2026Sphingosine-1-Phosphate Regulation to Alleviate Sickle Cell Disease Severity: A Promising Therapeutic Approach.Saudi medical journalPubMed ↗
- 2026Therapeutic Plasma Exchange as a Rescue Therapy in Sickle Cell Disease-Associated Fat Embolism Syndrome: Case Series and Literature Review.HemoglobinPubMed ↗
- 2026Effect of fully immersive virtual reality on daily pain, functional mobility, and health-related quality of life in pediatric sickle cell disease: a single-blinded randomized clinical trial.Disability and rehabilitationPubMed ↗
- 2026The Incidences of S and s Antigens of the MNS Blood Group System in the Western Region of Saudi Arabia.Clinical laboratoryPubMed ↗
- 2026Toward AI-Assisted Sickle Cell Screening: A Controlled Comparison of CNN, Transformer, and Hybrid Architectures Using Public Blood-Smear Images.Diagnostics (Basel, Switzerland)PubMed ↗
- 2026Novel use of genicular and vastus intermedius blocks for refractory knee pain in sickle cell disease.Saudi journal of anaesthesiaPubMed ↗
- 2026Temporal trends and determinants of ED visits in sickle cell disease: a multicenter EHR study from Saudi Arabia (2016-2021).Frontiers in medicinePubMed ↗
- 2026Pyruvate Kinase Activators for Sickle Cell Disease: An Exploratory Systematic Review and Meta-Analysis.HemoglobinPubMed ↗
- 2026Prevalence and Predictors of Priapism Among Patients with Sickle Cell Disease: A Cross-Sectional Study.Medicina (Kaunas, Lithuania)PubMed ↗
- 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 medicinePubMed ↗
- 2026Management of venous thrombosis in sickle cell disease: a comparative study on the use of direct oral anticoagulants and warfarin.Research and practice in thrombosis and haemostasisPubMed ↗
- 2026Sickle cell disease.Lancet (London, England)PubMed ↗
- 2026Can pre-transplant sickle cell disease characteristics predict early post-transplant complications?Bone marrow transplantationPubMed ↗
- 2026Factors Associated with Healthcare Utilization in Children with Sickle Cell Disease in Saudi Arabia.International journal of environmental research and public healthPubMed ↗
- 2026Predictors of Critical Care Interventions and Length of Stay in Pediatric Sickle Cell Acute Chest Syndrome: A Five-Year Pediatric Intensive Care Unit (PICU) Cohort Study.CureusPubMed ↗
- 2026A Comprehensive Review of Gene Mutations in Inherited Blood Disorders Among the Saudi Population.Human mutationPubMed ↗
- 2026Health-related quality of life among patients with sickle cell disease in the hereditary blood disease center in Saudi Arabia.MedicinePubMed ↗
- 2026Lived Experiences of Patients With Sickle Cell Disease and Kidney Failure: Insights From a Qualitative Study.Journal of patient experiencePubMed ↗
- 2026Distribution of Abnormal Hemoglobins in Saudi Arabia: Analysis of Private Sector Laboratory Data.Journal of epidemiology and global healthPubMed ↗
- 2026Self-Management Interventions in Young Adults (18-30 Years) With Type 1 Diabetes, Sickle Cell Disease, and Inflammatory Bowel Disease: A Scoping Review.Chronic diseases and translational medicinePubMed ↗
- 2026Hyperbaric Oxygen Therapy in Sickle Cell Disease: A Narrative Review of Mechanisms, Clinical Applications, and Future Directions.HemoglobinPubMed ↗
- 2026Influenza A-Triggered Severe Acute Chest Syndrome in a Child With Sickle Cell Disease Complicated by Plastic Bronchitis and Posterior Reversible Encephalopathy Syndrome.CureusPubMed ↗
- 2026The Correlation of Anti-phospholipid Antibodies, Anti-cyclic Citrullinated Peptide Antibody, Anti-nuclear Antibodies with Hematological Inflammatory Markers and Clinical Manifestations in Sickle Cell Disease During Steady State Phase.Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood TransfusionPubMed ↗
- 2026Predictors of Cerebrovascular Accident Among Sudanese Children with Sickle Cell Anemia.Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood TransfusionPubMed ↗
- 2026Update and review of the current medical and surgical management of sickle cell retinopathy.Eye and vision (London, England)PubMed ↗
- 2026Excellent outcomes using a novel reduced intensity conditioning with thiotepa and post-transplant cyclophosphamide for HLA-matched related donor transplant in adolescents and adults with sickle cell disease.Bone marrow transplantationPubMed ↗
- 2026The Role of Platelet-to-Neutrophil Ratio as a Biomarker for Pulmonary Hypertension in Sickle Cell Disease Patients: A Retrospective Cohort Study.Medicina (Kaunas, Lithuania)PubMed ↗
- 2026Blood viscosity in clinical practice: A critical review of diagnostic utility, therapeutic implications, and evidence gaps.Clinical hemorheology and microcirculationPubMed ↗
- 2026Changes in circular RNA expression in acute chest syndrome and vaso-occlusive crisis in sickle cell disease: analysis of a public RNA-seq cohort.Expert review of hematologyPubMed ↗
- 2026Knowledge and Awareness of Sickle Cell Disease Among Premarital Screening Participants in Makkah, Saudi Arabia: A Cross-Sectional Study.CureusPubMed ↗
- 2026Clinical, humanistic, and economic burden of sickle cell disease in The Jazan Region, Saudi Arabia.PloS onePubMed ↗
- 2026Platelet-Red Blood Cell Interactions in Thrombosis: Integrating Hemodynamic, Molecular, and Clinical Evidence-A Systematic Review.Seminars in thrombosis and hemostasisPubMed ↗
- 2026Global Prevalence of Alloimmunization in Adults with Sickle Cell Disease Receiving Red Blood Cell Transfusions: A Systematic Review and Meta-Analysis.Journal of clinical medicinePubMed ↗
- 2026Oral Radiographic Changes in Severe Sickle Cell Anemia Patients: A Retrospective Comparative Study.Clinical, cosmetic and investigational dentistryPubMed ↗
- 2026Orbital involvement in sickle cell disease: A systematic review.Survey of ophthalmologyPubMed ↗
- 2026A novel US-based grading system for disease severity in sickle cell disease: the Sickle Cell Outcome Grading System (SCOGS).The Lancet. HaematologyPubMed ↗
- 2026Establishment of the first nationwide registry for inherited hemoglobin and blood-related disorders (IHBD) in Saudi Arabia: design and clinical evaluation.BMC public healthPubMed ↗
- 2026CRISPR and Fanzor in sickle cell disease: current progress and future prospects.Frontiers in genome editingPubMed ↗
- 2026Excellent clinical and patient-reported outcomes following matched sibling donor BMT for sickle cell disease.Bone marrow transplantationPubMed ↗
- 2026Splenectomy Impact and Outcome Among Patients With Sickle Cell Disease: A Cross-Sectional Study.Health science reportsPubMed ↗
- 2026Living with sickle cell disease in the Arab world: Quality of life beyond clinical severity.Blood cells, molecules & diseasesPubMed ↗
- 2025Economic Burden of Sickle Cell Disease in Saudi Arabia.Value in health regional issuesPubMed ↗
- 2025Computer-assisted evaluation of retinal vessel tortuosity in children with sickle cell disease without retinopathy.Microvascular researchPubMed ↗
- 2025Real-World Evidence of Crizanlizumab Showing Reductions in Vaso-Occlusive Crises and Opioid Usage in Sickle Cell Disease.European journal of haematologyPubMed ↗
- 2025Effect of ABO Mismatch and Red Blood Cell Alloimmunization on the Outcome of Hematopoietic Cell Transplantation for Sickle Cell Disease.Transplantation and cellular therapyPubMed ↗
- 2025Effectiveness of implementation of sickle cell disease referral guidelines and other measures in paediatric department at a tertiary hospital in Saudi Arabia.BMJ open qualityPubMed ↗
- 2025Prophylactic vs therapeutic blood transfusions impact on pregnant sickle cell patients.Pakistan journal of medical sciencesPubMed ↗
- 2025Long-Term Survival Rates of a Sickle Cell Disease Cohort in Saudi Arabia: A 2009-2023 Observational Study.HemoglobinPubMed ↗
- 2025Indications for Blood Transfusion and Exchange Transfusion in Sickle Cell Disease: A Single Center Experience.CureusPubMed ↗
- 2025Rh and Kell Blood Group Antigen Frequencies in Saudi Arabia: a Review.Clinical laboratoryPubMed ↗
- 2025Exploratory Review and In Silico Insights into circRNA and RNA-Binding Protein Roles in γ-Globin to β-Globin Switching.CellsPubMed ↗
- 2025The Direct Medical Costs of Sickle Cell Disease in Saudi Arabia: Insights from a Single Center Study.Healthcare (Basel, Switzerland)PubMed ↗
- 2025Factors associated with early return visits to the emergency department in patients with vaso-occlusive crisis.BMC emergency medicinePubMed ↗
- 2025Emerging need for a hepato-hematology program for patients with sickle cell disease in Saudi Arabia.Saudi journal of gastroenterology : official journal of the Saudi Gastroenterology AssociationPubMed ↗
- 2025Insights Into the Caregiver Experience for Pediatric Patients With Sickle Cell Disease in Saudi Arabia: Demographic Profiles, Care Recipient Characteristics, and Subjective Well-Being.Pediatric blood & cancerPubMed ↗
- 2025A Meta Analysis of RBC Alloimmunization in Transfused Sickle Cell and Thalassemia Patients in Saudi Arabia.Clinical laboratoryPubMed ↗
- 2025Unraveling the Complex Genomic Interplay of Sickle Cell Disease Among the Saudi Population: A Case-Control GWAS Analysis.International journal of molecular sciencesPubMed ↗
- 2025Genome editing strategies for targeted correction of β-globin mutation in sickle cell disease: From bench to bedside.Molecular therapy : the journal of the American Society of Gene TherapyPubMed ↗
- 2025Trends in CT pulmonary angiography utilization and recurrent imaging in sickle cell disease: a longitudinal study.International journal of emergency medicinePubMed ↗
- 2025Evaluation of low-cost techniques to detect sickle cell disease and β-thalassemia: an open-label, international, multicentre study.The Lancet regional health. Southeast AsiaPubMed ↗
- 2025Outcomes of Hematopoietic Stem Cell Transplantation in children with Sickle Cell Disease: Does donor Sickle cell trait status matter?Bone marrow transplantationPubMed ↗
- 2025Therapeutic promise of CRISPR-Cas9 gene editing in sickle cell disease and β-thalassemia: A current review.Current research in translational medicinePubMed ↗
- 2025Evidence and gaps in clinical outcomes of novel pharmacologic therapies for sickle cell disease: A systematic literature review highlighting insights from clinical trials and real-world studies.Blood reviewsPubMed ↗
- 2025Hematopoietic Stem Cell Transplantation in Severe Pediatric Sickle Cell Disease: Outcome and long-term complications, Saudi experience at King Faisal Specialist Hospital, Riyadh, Saudi Arabia.Mediterranean journal of hematology and infectious diseasesPubMed ↗
- 2025Safety of Hydroxyurea in Pregnancy: A Systematic Review of the Literature.Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGCPubMed ↗
- 2025Position Paper on the Management of Sickle Cell Disease in Saudi Arabia: Understanding Disease Landscape, Identifying Challenges, and Exploring Opportunities in Transfusion Therapies.Journal of clinical medicinePubMed ↗
- 2025Trends in pain management of sickle cell disease patients presenting with acute vasoocclusive crises: a multi-center retrospective study in Saudi Arabia.Annals of Saudi medicinePubMed ↗
- 2025Hematopoietic Stem Cell Transplantation in Sickle Cell Disease.Advances in experimental medicine and biologyPubMed ↗
- 2025Predictors and health impacts of Ramadan intermittent fasting among patients with sickle cell disease.Frontiers in medicinePubMed ↗
- 2025Real-World Experience of L-Glutamine in Sickle Cell Disease: A Retrospective Observational Study.Pharmacy (Basel, Switzerland)PubMed ↗
- 2025Michael Acceptor Compounds as Hemoglobin Oxygen Affinity Modulators for Reversing Sickling of Red Blood Cells.Pharmaceuticals (Basel, Switzerland)PubMed ↗
- 2025WHO issues first global guideline to improve pregnancy care for women with sickle cell disease.Saudi medical journalPubMed ↗
- 2025The Whole Blood Transcriptomic Analysis in Sickle Cell Disease Reveals RUNX3 as a Potential Marker for Vaso-Occlusive Crises.International journal of molecular sciencesPubMed ↗
- 2025Association between sickle cell disease and autoimmune diseases in Saudi population: a single center study.Expert review of hematologyPubMed ↗
- 2025Hematological Characteristics of Patients With Sickle Cell Disease in Al Ahsa, Saudi Arabia.CureusPubMed ↗
- 2025Gene polymorphisms predicting response to hydroxyurea treatment in Bahraini patients with sickle cell disease.Expert review of hematologyPubMed ↗
- 2025Haplo-stem cell transplant post liver transplantation to cure sickle cell disease with related liver dysfunction: a case series.Communications medicinePubMed ↗
- 2025Nalbuphine as a Potential Alternative to Morphine in Sickle Cell Disease Patients with Vaso-occlusive Crisis: A Retrospective Cohort Study.Saudi journal of medicine & medical sciencesPubMed ↗
- 2025Prevalence, toxin virulence genes and investigating the effect of mutations in the tetracycline gene (tetK) on the response of methicillin-resistant Staphylococcus aureus to antibiotics: a study in sickle cell disease patients in Riyadh, Saudi Arabia.Saudi pharmaceutical journal : SPJ : the official publication of the Saudi Pharmaceutical SocietyPubMed ↗
- 2025Digital Prosthetic Rehabilitation for a Pediatric Patient: A Different Approach.Journal of dentistry for children (Chicago, Ill.)PubMed ↗
- 2025Distribution of Hemoglobinopathy Disorders in Al-Kharj Province Based on Data from the Premarital Screening and Genetic Counseling Program.Medicina (Kaunas, Lithuania)PubMed ↗
- 2025Author Correction: Haplo-stem cell transplant post liver transplantation to cure sickle cell disease with related liver dysfunction: a case series.Communications medicinePubMed ↗
- 2025Splenic sequestration crisis in children with sickle cell disease in the Eastern region of Saudi Arabia.BMC pediatricsPubMed ↗
- 2025Epigenetic mechanisms and next-gen editing platforms in hematology: From molecular basis to therapeutic frontiers.Critical reviews in oncology/hematologyPubMed ↗
- 2025The Economic Impact of Premarital Screening (PMS) of Sickle Cell Anemia on the Saudi Health System: A Cost Analysis Study.Healthcare (Basel, Switzerland)PubMed ↗
- 2025A Rare Tetrad of Sickle Cell Disease, Vascular Ehlers-Danlos Syndrome, Primary Ciliary Dyskinesia, and Phelan-McDermid Syndrome in a Saudi Child: A Complex Multisystem Pediatric Case Report.Pediatric reportsPubMed ↗
- 2025From Inconclusive Fine Needle Aspiration to Double Malignancies: A Case Report of Primary Thyroid Lymphoma With Concurrent Papillary Thyroid Carcinoma in a Sickle Cell Disease Patient in Saudi Arabia.CureusPubMed ↗
- 2025Prevalence, risk factors, and demographic insights of sickle cell hepatopathy in Omani adolescents and adults: A retrospective analysis.Saudi journal of gastroenterology : official journal of the Saudi Gastroenterology AssociationPubMed ↗
- 2025Factors affecting marriage decisions among couples with sickle cell or beta-thalassemia traits.Journal of Taibah University Medical SciencesPubMed ↗
- 2025Diagnostic Overshadowing and the Unseen Spectrum: A Narrative Review of Rare Complications in Sickle Cell Disease.Clinics and practicePubMed ↗
- 2025The use of Eculizumab and Tocilizumab in the treatment of Hyperhemolysis syndrome, a comprehensive literature review.Frontiers in medicinePubMed ↗