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Phenotype profile

sickle cell anemia

HP:0001878 · 603903 · SaudiVarKB evidence summary derived from retained literature mentions.

330Phenotype mentions
100Publications
21Associated gene records
18Associated variant records

Associated gene records

Co-mentioned in the same publications
GeneIdentifier / contextArticlesMentions
G6PDHGNC:405788
HBBHGNC:482777
BCL11AHGNC:1322166
CRPHGNC:236722
IMPACTHGNC:2038722
ANTXR1HGNC:2101422
SIRT1HGNC:1492911
NLRP3HGNC:1640011
CD34HGNC:166211
KLF1HGNC:634511
CD19HGNC:163311
MYH9HGNC:757911
HMOX1HGNC:501311
PGDHGNC:889111
CCR5HGNC:160611
LIN28AHGNC:1598611
BCL7AHGNC:100411
BCL2L1HGNC:99211
KLF6HGNC:223511
GATA6HGNC:417411
ZBTB7AHGNC:1807811

Associated variant records

Co-mentioned in the same publications
VariantIdentifier / contextArticlesMentions
rs333rs33311
rs3834466rs383446611
rs28440105rs2844010511
rs10128556rs1012855611
rs968857rs96885711
rs2071746rs207174611
rs4527238rs452723811
rs35685045rs3568504511
rs1427407rs142740711
rs6706648rs670664811
rs6738440rs673844011
rs7606173rs760617311
c.364G>Ac.364G>A11
p.Glu122Lysp.Glu122Lys11
rs4671393rs467139311
rs1427407rs142740711
rs9399137rs939913711
rs28384513rs2838451311

Associated population records

Co-mentioned in the same publications

Supporting publications

100 records
  1. 2026Health-related quality of life and adherence to hydroxyurea in patients with sickle cell anemia in Saudi Arabia.Medicine1 mentions
  2. 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 Transfusion1 mentions
  3. 2026Pyruvate Kinase Activators for Sickle Cell Disease: An Exploratory Systematic Review and Meta-Analysis.Hemoglobin1 mentions
  4. 2026Frequency of Alloimmunization in Patients on Regular Blood Transfusion in Riyadh, Saudi Arabia: A Multicenter Retrospective Study.Journal of clinical medicine1 mentions
  5. 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.Cureus1 mentions
  6. 2026Influenza A-Triggered Severe Acute Chest Syndrome in a Child With Sickle Cell Disease Complicated by Plastic Bronchitis and Posterior Reversible Encephalopathy Syndrome.Cureus1 mentions
  7. 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 Transfusion1 mentions
  8. 2026Oral Radiographic Changes in Severe Sickle Cell Anemia Patients: A Retrospective Comparative Study.Clinical, cosmetic and investigational dentistry1 mentions
  9. 2026CRISPR and Fanzor in sickle cell disease: current progress and future prospects.Frontiers in genome editing1 mentions
  10. 2025The Direct Medical Costs of Sickle Cell Disease in Saudi Arabia: Insights from a Single Center Study.Healthcare (Basel, Switzerland)1 mentions
  11. 2025Evaluation of low-cost techniques to detect sickle cell disease and β-thalassemia: an open-label, international, multicentre study.The Lancet regional health. Southeast Asia1 mentions
  12. 2025The Prevalence and Predictors of Sickle Cell Anemia in the Saudi Arabia General Population: Findings from a Cross-Sectional Study.Healthcare (Basel, Switzerland)1 mentions
  13. 2025Fox-Fordyce Disease in Women: A Case Report Highlighting Laser-Based Interventions.Cureus1 mentions
  14. 2025The Economic Impact of Premarital Screening (PMS) of Sickle Cell Anemia on the Saudi Health System: A Cost Analysis Study.Healthcare (Basel, Switzerland)1 mentions
  15. 2025Non-Traumatic Fat Embolism Syndrome in Two HbSS Sickle Cell Disease Patients: A Case Series and Review.Journal of blood medicine1 mentions
  16. 2025Radiologic Evaluation of Paranasal Sinuses in Sickle Cell Anemia and Thalassemia: Case-Control Study.Laryngoscope investigative otolaryngology1 mentions
  17. 2025Therapeutic drug monitoring of busulfan in pediatric patients: a 5-year observational study.BMC pharmacology & toxicology1 mentions
  18. 2025Fulminant Pneumococcal Meningitis With Neurovascular Complications in an Adult With Sickle Cell Anemia: A Case Report.Cureus1 mentions
  19. 2025Genetic patterns & public health implications of sickle cell anaemia across populations: A systematic review.The Indian journal of medical research1 mentions
  20. 2025The Impact of Aging on Organ Systems in Sickle Cell Disease: a Comparative Review of Physiological Adaptation and Dysfunction.Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology1 mentions
  21. 2024Plasminogen activator inhibitor-2 and impaired fibrinolysis in pregnancy and sickle cell anemia.Archives of gynecology and obstetrics1 mentions
  22. 2024CRISPR-Cas9 system: a novel and promising era of genotherapy for beta-hemoglobinopathies, hematological malignancy, and hemophilia.Annals of hematology1 mentions
  23. 2024Non-traumatic bilateral epidural hematoma in a child with sickle cell anemia: A case report and a review of the literature.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery1 mentions
  24. 2024Successful Conservative Therapy for Infected Penile Implants: A Case Series.The American journal of case reports1 mentions
  25. 2024Targeting SIRT1, NLRP3 inflammasome, and Nrf2 signaling with chrysin alleviates the iron-triggered hepatotoxicity in rats.Toxicology1 mentions
  26. 2024Risk factors for acute chest syndrome among children with sickle cell anemia hospitalized for vaso-occlusive crises.Scientific reports1 mentions
  27. 2024A Saudi Woman with Ceftriaxone Induced Fixed Drug Eruption.Case reports in dermatological medicine1 mentions
  28. 2024Beyond pulmonary embolism: Alternative diagnosis and incidental findings on CT pulmonary angiography in sickle cell disease.Emergency radiology1 mentions
  29. 2024Knowledge, Attitude, Motivators, and Barriers to Blood Donation Among Adults in Al-Qunfudah Governorate, Saudi Arabia: A Cross-Sectional Study.Cureus1 mentions
  30. 2024Total Hip Arthroplasty Complications in Sickle Cell Disease: Systematic Review and Meta-Analysis.Journal of clinical medicine1 mentions
  31. 2024Targeted therapeutic management based on phytoconstituents for sickle cell anemia focusing on molecular mechanisms: Current trends and future perspectives.Phytomedicine : international journal of phytotherapy and phytopharmacology1 mentions
  32. 2024Genetic Patterns of Oral Cavity Microbiome in Patients with Sickle Cell Disease.International journal of molecular sciences1 mentions
  33. 2024Assessment of Burden on Family Caregivers of Children With Sickle Cell Anemia in Al Madinah Al Munawwarah, Saudi Arabia.Cureus1 mentions
  34. 2024Impaired phagocytosis and oxidative respiratory burst activity in sickle cell anemia leukocytes.Journal of Taibah University Medical Sciences1 mentions
  35. 2024Opioid Control for Patients With Sickle Cell Anemia in Emergency Departments in the Western Region of Saudi Arabia.Cureus1 mentions
  36. 2024Outcome of Pediatric Patients With Sickle Cell Anemia Admitted With Fever: A Retrospective Single-Center Study.Cureus1 mentions
  37. 2024Associations of haematological and inflammatory biomarkers with brain volume in patients with sickle cell anaemia: A cross-sectional retrospective study.Tropical medicine & international health : TM & IH1 mentions
  38. 2024Quality of Life and Out-of-Pocket Expenditures for Sickle Cell Disease Patients in Saudi Arabia: A Single-Center Study.Healthcare (Basel, Switzerland)1 mentions
  39. 2024Prevalence and classification of anemia among children in Sudan: a systematic review and meta-analysis.Journal of medicine and life1 mentions
  40. 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
  41. 2023Impact of hydroxyurea on lymphocyte subsets in children with sickle cell anemia.Pediatric research1 mentions
  42. 2023Oral microbiota analyses of Saudi sickle cell anemics with dental caries.International dental journal1 mentions
  43. 2023The effect of different types of anemia on HbA1c levels in non-diabetics.BMC endocrine disorders1 mentions
  44. 2023Moyamoya syndrome secondary to mitochondrial disease in a patient with partial trisomy 13q14 and 13q31: A novel case report and literature review.Heliyon1 mentions
  45. 2023The Prevalence of Cardiovascular Manifestations in Pediatric Sickle Cell Anemia Patients in a Large Tertiary Care Hospital in the Western Region of Saudi Arabia.Cureus1 mentions
  46. 2023Outcomes of Cholelithiasis Among Patients With Sickle Cell Disease: A Tertiary Care Center Experience.Cureus1 mentions
  47. 2023The perception of pediatric sickle cell anemia patient's caregivers toward hematopoietic stem cell transplantation (single-center experience, Saudi Arabia).Frontiers in pediatrics1 mentions
  48. 2023Sickle cell anemia in pregnant Saudi women and its impact on birth weight and gestational maturity.Journal of the Chinese Medical Association : JCMA1 mentions
  49. 2023Molecular Detection of Hemoglobin O-Arab in the Sudanese Population.International journal of general medicine1 mentions
  50. 2023Assessing the Impact of COVID-19 Vaccines on Sickle Cell Anaemia Patients: A Comparative Analysis of Biochemical and Haematological Parameters.Biomedicines1 mentions
  51. 2023Therapeutic benefits of prophetic medicine remedies in treating hematological diseases (A review article).American journal of blood research1 mentions
  52. 2023Epidemiology of Glucose-6-Phosphate Dehydrogenase Deficiency in Arab Countries: Insights from a Systematic Review.Journal of clinical medicine1 mentions
  53. 2023Painless Orbital Bone Infarction in a Child with Sickle Cell Anemia: A Case of Misdiagnosed Periorbital Cellulitis.The American journal of case reports1 mentions
  54. 2023Multiple small bowel obstructions due to unusual formation of biliary phytobezoars following laparoscopic cholecystectomy in a sickler patient: A case report, an atypical surgical approach.International journal of surgery case reports1 mentions
  55. 2023Moyamoya Syndrome in Children With Sickle Cell Disease in Saudi Arabia: A Single-Center Experience.Cureus1 mentions
  56. 2023Frequency of Painful Crisis and Other Associated Complications of Sickle Cell Anemia Among Children.Cureus1 mentions
  57. 2023Renal outcomes in pediatric patients with sickle cell disease: a single center experience in Saudi Arabia.Frontiers in pediatrics1 mentions
  58. 2023Response to Lisinopril in Patients with Sickle Cell Anemia and Proteinuria.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
  59. 2022Telomere length and telomere repeat-binding protein in children with sickle cell disease.Pediatric research1 mentions
  60. 2022Prevalence of and risk factors for obstructive sleep apnea in children with sickle cell: a multicentric cross sectional study.Annals of hematology1 mentions
  61. 2022The association between obstructive sleep apnea and stroke in sickle-cell disease children.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery1 mentions
  62. 2022Phenotypic variation in sickle cell disease: the role of beta globin haplotype, alpha thalassemia, and fetal hemoglobin in HbSS.Expert review of hematology1 mentions
  63. 2022Rescue of photoreceptor with human mesenchyme stem cell and human mesenchyme stem cell expressing erythropoietin in total degeneration of retina animal model.Indian journal of ophthalmology1 mentions
  64. 2022Accuracy of transcranial Doppler in detecting intracranial stenosis in patients with sickle cell anemia when compared to magnetic resonance angiography.Journal of clinical ultrasound : JCU1 mentions
  65. 2022Upregulation of Nrf2 signaling and suppression of ferroptosis and NF-κB pathway by leonurine attenuate iron overload-induced hepatotoxicity.Chemico-biological interactions1 mentions
  66. 2022Protective potential of royal jelly against hydroxyurea -induced hepatic injury in rats via antioxidant, anti-inflammatory, and anti-apoptosis properties.PloS one1 mentions
  67. 2022A Huge Subcapsular Splenic Cyst Like Hematoma in Sickle Cell Anemia.Cureus1 mentions
  68. 2022Platelet volume parameters as a tool in the evaluation of acute ischemic priapism in patients with sickle cell anemia.Archivio italiano di urologia, andrologia : organo ufficiale [di] Societa italiana di ecografia urologica e nefrologica1 mentions
  69. 2022Pulmonary function in children and adolescents with sickle cell disease after nonmyeloablative hematopoietic cell transplantation.Pediatric blood & cancer1 mentions
  70. 2022The prevalence of sickling abnormality in Oman: A review of relevant publications.Acta bio-medica : Atenei Parmensis1 mentions
  71. 2022Hematological and molecular analyses of the HbS allele among the Sudanese population.The Journal of international medical research1 mentions
  72. 2022Rheumatological picture of a patient having multifocal osteonecrosis associated with sickle cell anemia: a case study.American journal of blood research1 mentions
  73. 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
  74. 2022Prevalence of anemia in pre-school tribal children with reference to parasitic infections and nutritional impact.Journal of Taibah University Medical Sciences1 mentions
  75. 2022miRNA Expression Associated with HbF in Saudi Sickle Cell Anemia.Medicina (Kaunas, Lithuania)1 mentions
  76. 2022Deep Vein Thrombosis of the Left Lower Limb in a Sudanese Child with Sickle Cell Disease.Medicines (Basel, Switzerland)1 mentions
  77. 2022The Frequencies of ABO and Rh Phenotypes among Male Blood Donors in Northwestern Saudi Arabia.Clinical laboratory1 mentions
  78. 2022Impact of Abnormal Leukocyte Count in the Pathophysiology of Sickle Cell Anemia.Journal of blood medicine1 mentions
  79. 2022Skeletal and dental manifestations of Glucose-6-phosphate dehydrogenase deficiency, thalassemia, and sickle cell anemia patients in Saudi Arabia.European review for medical and pharmacological sciences1 mentions
  80. 2022High platelet distribution width can independently predict testicular survival in testicular torsion among patients with steady-state sickle cell anemia.World journal of pediatric surgery1 mentions
  81. 2022Deferasirox versus deferoxamine in managing iron overload in patients with Sickle Cell Anaemia: a systematic review and meta-analysis.The Journal of international medical research1 mentions
  82. 2022Awareness of stroke signs, symptoms, and risk factors among Jazan University students: An analytic cross-sectional study from Jazan, Saudi Arabia.Medicine1 mentions
  83. 2021Risk Factors and Complications Among Pediatric Patients With Sickle Cell Anemia: A Single Tertiary Center Retrospective Study.Cureus1 mentions
  84. 2021Sevuparin for the treatment of acute pain crisis in patients with sickle cell disease: a multicentre, randomised, double-blind, placebo-controlled, phase 2 trial.The Lancet. Haematology1 mentions
  85. 2021Co-Inheritance of α-thalassemia gene mutation in patients with sickle cell Disease: Impact on clinical and hematological variables.Nigerian journal of clinical practice1 mentions
  86. 2021Commonly used agent for acute pain management of sickle cell anemia in Saudi Emergency Department: A narrative review.Saudi pharmaceutical journal : SPJ : the official publication of the Saudi Pharmaceutical Society1 mentions
  87. 2021Rare presentation of infective endocarditis due to Salmonella entrica subspecies salamae (subgroup ll) in a sickle cell anemia girl.IDCases1 mentions
  88. 2021Evaluation of role of HPLC (Merits & Pitfalls), in the diagnosis of various hemoglobinopathies & thalassemic syndromes.Indian journal of pathology & microbiology1 mentions
  89. 2021Incidence and predictors of bacterial infections in febrile children with sickle cell disease.International journal of pediatrics & adolescent medicine1 mentions
  90. 2021Analysis of Causes of Hospitalization Among Children with Sickle Cell Disease in a Group of Private Hospitals in Jeddah, Saudi Arabia.Journal of blood medicine1 mentions
  91. 2021COVID-19 in Saudi Patients With Sickle Cell Disease: A Retrospective Multi-Center Study.Cureus1 mentions
  92. 2021Infectious complications in adult sickle cell anemia patients undergoing hematopoietic stem cell transplantation.Bone marrow transplantation1 mentions
  93. 2021Testicular Volume in Children with Sickle Cell Anaemia in Uyo, a South-South Nigerian City.Journal of tropical pediatrics1 mentions
  94. 2021Iron Chelation Reduces DNA Damage in Sickle Cell Anemia.Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis1 mentions
  95. 2021Prevalence of Red Blood Cell Alloimmunization Among Beta-Thalassemia and Sickle Cell Anemia Patients: a Study from Saudi Arabia.Clinical laboratory1 mentions
  96. 2021Epidemiology of community-acquired acute kidney injury in children as seen in an emergency room of Tertiary Hospital in South-South Nigeria.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
  97. 2021Distal Renal Tubular Acidosis due to Primary Sjögren's Syndrome: Presents as Hypoakalemic Paralysis with Hypokalemia-Induced Nephrogenic Diabetes Insipidus.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
  98. 2020Multi-focal Clostridioides (Clostridium) difficile osteomyelitis in a patient with sickle cell anemia: case presentation and literature review.Diagnostic microbiology and infectious disease1 mentions
  99. 2020The role of hydroxyurea in decreasing the occurrence of vasso-occulusive crisis in pediatric patients with sickle cell disease at King Saud Medical City in Riyadh, Saudi Arabia.Saudi medical journal1 mentions
  100. 2020The Effect of Serum Ferritin Level on Gonadal, Prolactin, Thyroid Hormones, and Thyroid Stimulating Hormone in Adult Males with Sickle Cell Anemia.Journal of blood medicine1 mentions