ReviewInternational journal of neonatal screening2019
Sickle Cell Disease-Genetics, Pathophysiology, Clinical Presentation and Treatment.
Review in International journal of neonatal screening, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06023199 (Assessing Functional Capacity in Sickle Cell Patients Receiving Voxelotor), which is not on this map. Cited by 122 papers, 7 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Assessing Functional Capacity in Sickle Cell Patients Receiving Voxelotor
Who cites it
122 citing papers in PubMed, 7 syntheses or guidelines pooled it, 254 citations in OpenAlex.
- Vitamin B12 Deficiency in Sickle Cell Disease: Method-Driven Estimates and Systematic Diagnostic Misclassification.European journal of haematology · 2026Pooled it
- Retinal microvascular alterations in sickle cell disease: a systematic review and meta-analysis of OCTA findings based on genotype and stages of retinopathy.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2026Pooled it
- Risk of cancer in patients with thalassemia and sickle cell disease: a systematic review.Annals of medicine · 2025Pooled it
- Frequency of red blood cell allo-immunization in transfused patients with sickle cell disease in Africa: a systematic review with meta-analysis.African health sciences · 2024Pooled it
- Role of hydroxyurea therapy in the prevention of organ damage in sickle cell disease: a systematic review and meta-analysis.Systematic reviews · 2024Pooled it
- Deferasirox versus deferoxamine in managing iron overload in patients with Sickle Cell Anaemia: a systematic review and meta-analysis.The Journal of international medical research · 2022Pooled it
- Health-Related Quality of Life and Adherence to Hydroxyurea and Other Disease-Modifying Therapies among Individuals with Sickle Cell Disease: A Systematic Review.BioMed research international · 2022Pooled it
- End-to-end deep learning methods for genetic risk prediction of schizophrenia.Nature communications · 2026Article
- Cerebral fat embolism syndrome in sickle cell disease: a case highlighting the predominance of susceptibility-weighted imaging findings and literature review.Radiology case reports · 2026Article
- Ferritin as a diagnostic point-of-care marker in iron deficiency anemia: a narrative review and clinical implications.Annals of translational medicine · 2026Review
- Half a century of pneumococcal vaccination in sickle cell disease: Are we winning the battle or losing immunity?Vaccine · 2026Review
- Restoring the Balance: CRISPRa-Driven β-Tubulin Compensation as a Strategy for Tubulinopathy Treatment.International journal of molecular sciences · 2026Article
- Spontaneous calvarial regeneration after craniectomy for sickle cell-related skull infarction and spontaneous epidural hematoma: implications for delayed cranioplasty.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026Article
- Incidence and risk factors for vaso occlusive crisis among children living with sickle cell disease in Uganda: a cohort study.Research square · 2026Article
- Safety and effectiveness of voxelotor in individuals with sickle cell disease in the RETRO and PROSPECT US registries.Blood advances · 2026Observational
- Sickle cell retinopathy in Africa: a systematic review and meta-analysis.Scientific reports · 2026Article
- Efficacy of Ayurveda Regimen as an Adjunct to Hydroxyurea in Sickle Cell Disease: Protocol for a Prospective, Randomized, Open-Label, Blinded End Point Exploratory Study.JMIR research protocols · 2026Article
- Update and review of the current medical and surgical management of sickle cell retinopathy.Eye and vision (London, England) · 2026Review
- Acute kidney injury: incidence, risk factors, and early outcomes in hospitalized children with sickle cell disease attending a tertiary hospital in Eastern Uganda.BMC pediatrics · 2026Article
- Serum Vitamin A levels in children with sickle cell anemia: relationship with pulmonary function indices.BMC pediatrics · 2026Article
62 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 7 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Sickle cell disease (SCD) is a monogenetic disorder due to a single base-pair point mutation in the β-globin gene resulting in the substitution of the amino acid valine for glutamic acid in the β-globin chain. Phenotypic variation in the clinical presentation and disease outcome is a characteristic feature of the disorder. Understanding the pathogenesis and pathophysiology of the disorder is central to the choice of therapeutic development and intervention. In this special edition for newborn screening for haemoglobin disorders, it is pertinent to describe the genetic, pathologic and clinical presentation of sickle cell disease as a prelude to the justification for screening. Through a systematic review of the literature using search terms relating to SCD up till 2019, we identified relevant descriptive publications for inclusion. The scope of this review is mainly an overview of the clinical features of pain, the cardinal symptom in SCD, which present following the drop in foetal haemoglobin as young as five to six months after birth. The relative impact of haemolysis and small-vessel occlusive pathology remains controversial, a combination of features probably contribute to the different pathologies. We also provide an overview of emerging therapies in SCD.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.