Raras
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Anemia falciforme
ORPHA:275752CID-10 · D57.0PCDT · SUSDOENÇA RARA

Anemia drepanocítica, drepanocitose ou anemia falciforme é uma doença hematológica hereditária monogénica, caracterizada pela produção anormal de hemoglobinas, entre as quais a mais comum é a forma HbS, que sob determinadas condições de desoxigenação, polimeriza, deformando as hemácias, que assumem uma forma semelhante a foices, causando deficiência no transporte de oxigénio e gás carbónico e outras complicações, nos indivíduos acometidos pela doença. Por esse motivo, a anemia drepanocítica é também conhecida por anemia falciforme. Do ponto de vista patogenético, está classificada entre as anemias por "defeito da síntese de hemoglobina", a proteína que transporta oxigénio presente nos glóbulos vermelhos, embora a anemia seja em parte determinada pela hemólise esplénica.

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Introdução

O que você precisa saber de cara

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Doença genética rara que causa deformação dos glóbulos vermelhos em forma de foice, levando a dor intensa, danos a órgãos e anemia crônica.

Pesquisas ativas
33 ensaios
1170 total registrados no ClinicalTrials.gov
Publicações científicas
21.848 artigos
Último publicado: 2026
🏥
SUS: Cobertura completaScore: 80%
PCDT disponível5 medicamentos CEAFTriagem neonatal (Fase 1)CID-10: D57.0
🇧🇷Dados SUS / DATASUS2024
42.356
internações/ano
R$ 2.848
custo médio/internação
ESTADOS COM MAIS INTERNAÇÕES
BAMGRJSPMA
PROCEDIMENTOS SIGTAP (2)
0202080013
Teste do pezinho (triagem neonatal)newborn_screening
0202010317
Eletroforese de hemoglobinaslab_test
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Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico21.848PubMed
Últimos 10 anos200publicações
Pico2026194 papers
Linha do tempo
2026Hoje · 2026🧪 1977Primeiro ensaio clínico
Publicações por ano (últimos 10 anos)

Triagem neonatal (Teste do Pezinho)

👶
Teste: Eletroforese de hemoglobinas / HPLC
Fase 1 do PNTNTriagem nacionalimplemented_nationally
Incidência no Brasil: 1:1.000 (afrodescendentes), 1:3.500 (geral)

A triagem neonatal permite diagnóstico precoce e início imediato do tratamento.

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Genética e causas

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Nenhum gene associado encontrado

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Aprovado1
3Fase 33
2Fase 27
1Fase 12
·Pré-clínico7
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 20 ensaios
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Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

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Ensaios clínicos abertos e novidades científicas recentes

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20 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

NCT03937817 · Collection of Human Biospecimens for Basic and Clinical Rese…Recrutando
NCT04774536 · Transplantation of Clustered Regularly Interspaced Short Pal…Recrutando
PHASE1, PHASE2
NCT06699849 · Safety, Efficacy, and Pharmacokinetics of CSL889 in Adults a…Recrutando
PHASE2
NCT05170412 · Dietary Intake and Dietary Behaviors in Adults With Sickle C…Recrutando
NCT07392216 · Functional Ovarian Reserve in Sickle Cell DiseaseRecrutando
NCT07247188 · Study of a Single Dose of a 21-valent Pneumococcal Conjugate…Recrutando
PHASE3
NCT06016634 · Alendronate for Osteonecrosis in Adults With Sickle Cell Dis…Recrutando
PHASE2
NCT07064174 · Sickle Cell Kidney BiorepositoryRecrutando
NCT06635902 · Intravenous L-Citrulline for Vaso-occlusive Pain Episode in …Recrutando
PHASE2
NCT06975865 · The Efficacy and Safety of Rilzabrutinib in Participants Age…Recrutando
PHASE3
NCT06880679 · Ultrasound Acute Chest Syndrome Sickle Cell DiseaseRecrutando
NA
NCT05736419 · A Study of Immune Suppression Treatment for People With Sick…Recrutando
PHASE2
NCT04657822 · Rollover Study for Patients With Sickle Cell Disease Who Hav…Recrutando
PHASE4
NCT05640271 · Tocilizumab for Acute Chest SyndromeRecrutando
PHASE2
NCT06886477 · Sickle Cell, Pain and Mediterranean DietRecrutando
NA
NCT07187973 · A Phase 1b, Open-Label Study of DISC-3405 in Participants Wi…Recrutando
PHASE1
NCT06924970 · A Dose-Finding Study of Tebapivat to Assess Efficacy, and Sa…Recrutando
PHASE2
NCT04416178 · Sickle Cell Disease and the Genomic and Gene Therapy Needs o…Recrutando
NCT07431398 · Single-dose Pharmacokinetics of Pociredir in Participants Wi…Recrutando
PHASE1
NCT06439082 · A Study to Investigate the Efficacy and Safety of Crizanlizu…Recrutando
PHASE3

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Publicações mais relevantes

Timeline de publicações
11.841 papers (10 anos)

Mostrando amostra de 200 publicações de um total de 11.841

#1

Iron overload damages mitochondria and induces metabolic rewiring of hematopoietic stem cells towards glycolysis.

Blood2026 Mar 24

Iron is an essential element for most cellular processes and recent evidence highlighted its role in regulating the function of hematopoietic stem cells (HSCs). Abnormal iron levels impact HSC quiescence and self-renewal, however, the mechanism by which iron overload (IO) influences HSC function is still unknown. Here, we show that intracellular IO impairs mitochondrial fitness and bioenergetics, inducing metabolic rewiring. In thalassemic mice, as a model of chronic IO, HSCs accumulate mitochondria with elevated reactive oxygen species (mtROS), low membrane potential and reduced oxidative phosphorylation (OXPHOS). Mitochondrial defects are confirmed in other two models of IO, sickle cell disease and iron-loaded wild-type mice, and in vivo iron reduction rescues HSC mitochondria. IO HSCs are highly proliferating and in presence of damaged mitochondria rely on glycolysis for energy production. Notably, restoration of mitochondrial function by targeting in vivo mtROS improved the quiescence and self-renewal of IO HSCs. Our results unravel the critical interplay between iron, ROS and mitochondrial activity in HSCs, revealing that IO shapes HSC metabolic programs.

#2

Cystic Fibrosis and Sickle Cell Disease Associated with Non-administration of VTE Prophylaxis in Hospitalized Adults.

Blood advances2026 Mar 24

Cystic fibrosis (CF) and sickle cell disease (SCD) are associated with increased risk of venous thromboembolism (VTE), and this risk is exacerbated by hospitalization. VTE prophylaxis non-administration is a VTE risk factor. The objective of this study was to characterize VTE prophylaxis non-administration among patients with either CF or SCD compared to medically ill patients without CF or SCD. We conducted a single-center retrospective cohort study of hospitalized patients who were prescribed at least 2 doses of pharmacologic VTE prophylaxis. The primary outcome was the proportion of non-administered VTE prophylaxis doses by cohort. Multivariable logistic regression was used to identify characteristics associated with non-administration. A total of 13,316 patients were included; 89 with CF, 246 with SCD, and 12,981 other-medically ill. During the study period, 95,697 doses were prescribed; non-administration rates were 61.8% in the CF cohort, 32.7% in the SCD cohort, and 19.7% in the medically ill cohort (p<0.01). In the multivariable logistic regression, CF or SCD diagnosis [odds ratio (OR) 2.03, 95% confidence interval (CI) 1.59-2.6], multiple admissions (OR 2.4, 95% CI 2.19-2.64), and >5 prescribed doses of VTE prophylaxis (OR 2.48, 95% CI 2.29-2.69) were associated with non-administration of one or more doses. The percent of missed doses (median, IQR) per patient was highest in the CF cohort (66.7%, 84.5), followed by the SCD cohort (10.6%, 50), and medically ill cohort (0%, 16.7, p<0.01). These findings suggest strategies to improve VTE prophylaxis administration rates during acute hospitalization in high-risk conditions such as CF and SCD are needed.

#3

Technology Access and Preferences for Smartphone App Interventions to Optimize Iron Chelation Therapy Adherence Among Adolescents, Young Adults, and Parents of Children Receiving Chronic Transfusions: Cross-Sectional Survey Study.

JMIR pediatrics and parenting2026 Mar 24

Iron chelation therapy (ICT) is essential for people with hematological disorders requiring chronic transfusions to minimize the risk of iron overload, yet suboptimal adherence is prevalent. Widespread use of personal technology makes mobile health (mHealth) an attractive platform to promote adherence. This study aimed to examine access to mobile technology and preferences for an mHealth intervention to improve adherence to ICT. A cross-sectional survey that included 63 items assessing technology access, mHealth preferences, and demographics was administered through REDCap (Research Electronic Data Capture), a digital research data tool, during packed red blood cell transfusion visits. Parents of children receiving chronic transfusions, as well as adolescents and young adults receiving chronic transfusions, were enrolled between August 2018 and June 2019. Patients had to have a hematologic diagnosis requiring chronic transfusions, be receiving ICT, and be aged 12 years or older to complete the survey. Parents were required to have a child aged 24 months who met these criteria. A total of 60 participants were included (median age 31.5, IQR 20-39 years; n=40, 67% female), with 29 (48%) being parents and 31 (52%) being patients. All parents and patients owned an electronic tablet, a smartphone, or both. The most endorsed mHealth app features among all participants included laboratory test monitoring (55/60, 92%), reminders to take iron chelation medication (50/60, 83%), and education about ICT (49/60, 82%). Parents' most endorsed features included laboratory test monitoring (27/29, 93%) and education about ICT (25/29, 86%). Patients' most endorsed features included laboratory test monitoring (28/31, 90%) and reminders to take iron chelation medication (28/31, 90%). There were no substantial differences between parents and patients in their preferences. Both parents and adolescents and young adults reported a strong interest in multiple mHealth app features. Participants provided valuable insights into optimal strategies and preferred app features for developing a multifunctional technology-based behavioral intervention to promote ICT adherence.

#4

Nonmyeloablative pentostatin-cyclophosphamide preconditioning improves rates of engraftment in adults undergoing haploidentical HCT for sickle cell disease.

PloS one2026

The morbidity and mortality of sickle cell disease (SCD) remain high. Novel nonmyeloablative haploidentical hematopoietic cell transplant (HCT) regimens are being proposed. This report compared the effect of adding an IV pentostatin and oral cyclophosphamide (PC) preconditioning to the nonmyeloablative NIH HCT platform of alemtuzumab and total body irradiation (TBI) in adults with severe SCD. Transplant outcomes were compared to a historical HCT cohort that did not receive the PC preconditioning. Thirty-nine adult SCD patients were included. The median age was 33 years, 61% were male, and 92% were HbSS genotype. The median follow-up was 6.5 years. Many patients had severe end-organ damage, including dialysis-dependent end-stage kidney disease (8%) and cirrhosis (10%). One-year overall survival was 95%. The PC regimen was associated with a reduction in acute rejection one-year post-HCT (5% vs. 44%; p = 0.004) and lower graft failure rates throughout the follow-up period. After a median follow-up of 5.2 years, the disease-free survival was 71% for the PC regimen. The PC preconditioning was associated with higher rates of full donor chimerism at 2-years post-HCT (0% vs. 43%; p = 0.02). Grade II-IV acute graft-versus-host disease (GVHD) rates were low; no patients developed moderate to severe chronic GVHD. There remain no cases of myeloid malignancy after PC. With the increased immunosuppression of PC, 23% of patients developed post-transplant lymphoproliferative disorder, 19% developed immune cytopenias, and 62% had viral reactivation. Further study to determine an optimal nonmyeloablative haploidentical regimen for SCD patients with compromised organ function is imperative. ClinicalTrials.gov (NCT00977691, NCT03077542).

#5

Novel use of a Hash-Based Tokenization for Sharing Sickle Cell Disease Data Without Sharing PHI.

Blood advances2026 Mar 20

Efforts to improve care for people living with sickle cell disease (SCD) have led to the development of several registries; however, many are dependent on time-limited funding and lack coordination. Consequently, existing datasets are fragmented and do not provide the comprehensive, longitudinal insights achievable through well-integrated registries. Although relevant data exist within electronic medical records across institutions, aggregation is limited by poor interoperability, inconsistent use of common data elements, and poor translation of natural language into codified data. These barriers hinder population-level research and contribute to gaps in understanding the lifelong progression of SCD. Creating a new common data system risk losing years of valuable data, highlighting the need to optimize existing data resources. This study aimed to develop a privacy-preserving method to securely link three of the largest SCD data collection efforts in the United States. Conducted at the University of Alabama at Birmingham Lifespan Sickle Cell Center, the study leveraged IRB-approved access to the Sickle Cell Data Collection project, the American Society of Hematology Research Collaborative Data Hub, and the Globin Research Network for Data and Discovery (GRNDaD). Identity tokens were generated and hashed using SHA-256 to enable secure linkage without sharing protected health information. 8,026 records were identified across the three registries. Deterministic matching of hashed tokens identified 1,080 unique individuals appearing in at least two datasets. This study demonstrates the first privacy-preserving linkage of multiple SCD registries. Secure data integration enhances interoperability and enables richer longitudinal analyses critical for advancing SCD research and treatment development.

Publicações recentes

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📚 EuropePMC14.972 artigos no totalmostrando 198

2026

Iron overload damages mitochondria and induces metabolic rewiring of hematopoietic stem cells towards glycolysis.

Blood
2026

Cystic Fibrosis and Sickle Cell Disease Associated with Non-administration of VTE Prophylaxis in Hospitalized Adults.

Blood advances
2026

Technology Access and Preferences for Smartphone App Interventions to Optimize Iron Chelation Therapy Adherence Among Adolescents, Young Adults, and Parents of Children Receiving Chronic Transfusions: Cross-Sectional Survey Study.

JMIR pediatrics and parenting
2026

Fulminant Acute Chest Syndrome and Multiorgan Failure in Sickle Cell Disease With Chronic Hepatic Vasculopathy: A Fatal Synergy.

Cureus
2026

Outcomes of hematopoietic stem cell transplantation in adult sickle cell disease patients: A Single-Center experience from India.

Annals of hematology
2026

Myeloperoxidase in the pathogenesis of sickle cell disease.

Archives of biochemistry and biophysics
2026

ENDOTHELIUM-DERIVED ENDOTHELIN-1 MEDIATES SICKLE CELL NEPHROPATHY.

Function (Oxford, England)
2026

Nonmyeloablative pentostatin-cyclophosphamide preconditioning improves rates of engraftment in adults undergoing haploidentical HCT for sickle cell disease.

PloS one
2026

Patient Experiences of Acute Pain Communication in Sickle Cell Disease and Perspectives on Improving Clinician Communication.

Journal of clinical psychology in medical settings
2026

The Longitudinal Effect of APOL1 Risk Alleles on Sickle Cell Anemia-Associated Kidney Function.

American journal of hematology
2026

Recruitment and retention of young adults with sickle cell disease.

Health care transitions
2026

Exploring the latest emerging drugs for the treatment of sickle cell disease.

Expert opinion on emerging drugs
2026

Association of PON1 gene polymorphisms, paraoxonase 1 gene expression and activity in Egyptian children and adolescents with sickle cell disease.

BMC pediatrics
2026

Cryopreservation of Red Blood Cells From Sickle Cell Disease Patients for Comparison of Oxygen Gradient Ektacytometry Parameters Between Laboratories to Enable Data Harmonization.

International journal of laboratory hematology
2026

Novel use of a Hash-Based Tokenization for Sharing Sickle Cell Disease Data Without Sharing PHI.

Blood advances
2026

Biophysical characterization of spCas9 binding and cleavage using real-time electronic biosensors.

Sensors &amp; diagnostics
2026

Prevention and Management of Acute Chest Syndrome Without Automated Red Cell Exchange Among Patients With Sickle Cell Disease Not Requiring ICU Care: A Systematic Review and Network Meta-Analysis.

European journal of haematology
2026

Elevated tricuspid regurgitation velocity in adults with sickle cell disease and HbAA controls in Kinshasa, Democratic Republic of the Congo: a comparative cross-sectional study.

Annals of hematology
2026

Can pre-transplant sickle cell disease characteristics predict early post-transplant complications?

Bone marrow transplantation
2026

Action taken upon the detection of sickle cell trait (heterozygous hemoglobinopathy S) in newborn screening in Spain.

Revista clinica espanola
2026

Plasma proteome signatures are predictive of mortality in sickle cell disease.

Blood advances
2026

IFN-I-Mediated Transcriptional Reprogramming Drives Myeloid-Skewed Hematopoiesis in Sickle Cell Anemia.

American journal of hematology
2026

Fat Embolization Syndrome in Sickle Cell Disease: A Case Report.

Cureus
2026

Variations in mitochondrial genome as potential prognostic markers in sickle cell disease.

Haematologica
2026

Predictors of Acute Chest Syndrome in Patients With Sickle Cell Disease: A Cross-Sectional Observational Study.

Cureus
2026

Welding the Gap on Sickle Cell Education.

Pediatric blood &amp; cancer
2026

Characterizing Engagement With a Mobile Health Application Designed for Adolescents and Young Adults With Sickle Cell Disease: Findings From the COMETS Study.

Pediatric blood &amp; cancer
2026

Imaging biomarkers to predict the development of sinusoidal obstruction syndrome of the liver in pediatric hematopoietic cell transplant recipients.

Bone marrow transplantation
2025

Stroke risk assessment in children with sickle cell disease using transcranial Doppler ultrasound in Cameroon.

The Pan African medical journal
2026

Staged Total Hip Arthroplasty for Septic Hip Following Core Decompression in Sickle Cell-Related Osteonecrosis: A Case Report and Review of the Literature.

Cureus
2026

A mixed-methods evaluation to optimize the existing hospital based sickle cell disease care model from a tribal area of Gujarat, India.

Journal of public health research
2026

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

Pediatric blood &amp; cancer
2026

Longitudinal Trends of Pica Behaviors, Behavioral Support, and Healthcare Utilization in Pediatric Sickle Cell Disease.

Pediatric blood &amp; cancer
2026

Reproductive Health and Pregnancy Outcomes Among Women With Sickle Cell Disease in Tribal Communities of India: A Community-Based Retrospective Comparative Study.

Pediatric blood &amp; cancer
2026

Pyruvate kinase activators in hereditary haemolytic anaemias: current evidence and clinical potential.

Lancet (London, England)
2026

Back to basics in sickle cell disease.

Lancet (London, England)
2026

Exploring Affordable Curative Therapy for Sickle Cell Disease in Africa: A Comprehensive Overview.

American journal of hematology
2026

Genetics and Genomics in Sickle Cell Disease in Africa.

American journal of hematology
2026

Sickle Cell Disease in Sub-Saharan Africa: Progress and Potential.

American journal of hematology
2026

The Epidemiology of Sickle Cell Disease in Sub-Saharan Africa: Current Knowledge and Gaps to be Filled.

American journal of hematology
2026

Advancing Sickle Cell Disease Treatment in Sub-Saharan Africa: Challenges and Opportunities for Disease Modifying Therapies.

American journal of hematology
2026

Creative and Adaptive Solutions for Early Diagnosis of Sickle Cell Disease in Sub-Saharan Africa.

American journal of hematology
2026

Mechanism-informed transition from pediatric to adult care in sickle cell disease: a case study.

BMC health services research
2026

Understanding stroke risk phenotypes in pediatric patients with sickle cell disease and concurrent moyamoya arteriopathy: insights from 61 cases at a single institution.

Journal of neurosurgery. Pediatrics
2026

Unheard and Under-Supported: Health-Related Quality of Life in Children, Adolescents, and Young Adults With Sickle Cell Disease.

Pediatric blood &amp; cancer
2026

Regulation of BCL11A DNA binding and expression in human erythrocyte precursor HUDEP-2 cells.

bioRxiv : the preprint server for biology
2026

Loss to Follow-Up Rates Among Pediatric Sickle Cell Disease Patients in an Ophthalmology Clinic.

Journal of vitreoretinal diseases
2026

Benefits of isovolemic hemodilution red cell exchange: Real or imagined?

Transfusion
2026

Oxidative Stress, Antioxidant Capacity, Dyslipidemia and Cardiovascular Risk in Sickle Cell Disease: A Systematic Review and Meta-Analysis.

TheScientificWorldJournal
2026

Hip Osteonecrosis in Sickle Cell Disease Patient With Severe Central Head Collapse Treated With Staged Hip Preservation: A Case Report.

JBJS case connector
2026

Low self-esteem in adolescents with sickle cell disease: Determinants and coping mechanisms; A mixed methods study.

PloS one
2026

Burnout in Sickle Cell Disease-Focused Hematology-Oncology Trained Physicians: A National Cross-Sectional Study.

Blood advances
2026

Total Hip Arthroplasty in Lubumbashi (DR Congo), Outcomes in a Resource-Limited Setting.

Journal of orthopaedic case reports
2026

Adolescent Cholelithiasis: Evolving Challenges and Clinical Implications.

Cureus
2026

Use of standardized order sets and associated outcomes in the Emergency Department: A scoping review.

The American journal of emergency medicine
2026

A multi-feature alignment fusion neural network model for red blood cell aggregation classification using ultrasonic radiofrequency data of blood.

Artificial intelligence in medicine
2026

Newborn Screening Results for Sickle Cell Disease from the ASH Consortium on Newborn Screening in Africa (CONSA).

Blood advances
2026

Sodium glucose co-transporter inhibition as a strategy to stabilize the microvasculature in sickle cell disease.

Cardiovascular research
2026

Photoacoustic Imaging of Muscle Tissue Oxygenation as a Noninvasive Biomarker in Mouse Models of Sickle Cell Disease.

Molecular imaging and biology
2026

CRISPR in Medicine: A Systematic Review of Clinical Trials and Therapeutic Applications.

Human gene therapy
2026

Management 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 haemostasis
2025

Long-term mitapivat treatment is safe and efficacious in patients with sickle cell disease.

Blood. Red cells &amp; iron
2025

The 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 pharmacology
2026

MULTIsite feasibility of MUSIc therapy to address Quality Of Life in Sickle cell disease (MULTI-MUSIQOLS): protocol for a mixed-methods randomised controlled trial at two US medical centres.

BMJ open
2026

Asthma screening in children with sickle cell disease in French Guiana.

BMJ paediatrics open
2026

Beyond HbS polymerization inhibition: Antioxidant and anti-hemolytic actions of two varieties of Vigna sesquipedalis (L.) F.Agcaoili in sickle cell disease.

Journal of ethnopharmacology
2026

Iron, arginine, and redox metabolism in peripheral blood mononuclear cells distinguishes sickle cell disease and pulmonary hypertension.

HemaSphere
2026

Global Burden of Sickle Cell Disease: Adequacy of Pain Control as Evidenced by Frequency of Oral Pain Medication Use, Health Outcomes, and Emotional Well-Being Across Diverse Populations.

EJHaem
2026

Sickle cell related cardiomyopathy and cardiovascular autonomic dysfunction.

Frontiers in cardiovascular medicine
2026

Pediatric Hepatobiliary Lithiasis in Homozygous Sickle Cell Disease: Laboratory Insights Into Cholestasis and Hemolysis.

Cureus
2026

Hydroxyurea in Sickle Cell Disease: Coagulation and Activation in an Observational Study.

Clinical medicine insights. Pediatrics
2026

Gene expression profiling identifies potential biomarkers for vaso-occlusive episodes in sickle cell disease.

JCI insight
2026

Loss of energy homeostasis contributes to hepatic damage development in sickle cell disease.

Molecular metabolism
2026

Liver Cirrhosis and In-Hospital Outcomes in Patients With Sickle Cell Crises.

EJHaem
2026

Peripheral Nerve Stimulation for Intractable Neuropathic Foot Pain in Sickle Cell Disease: A Case Report Introducing a Novel Interventional Approach.

Pain medicine case reports
2026

Sickle cell visualization in vivo in humans: microvascular occlusion formation and hemorheological indices.

Blood advances
2026

Role of the primary healthcare providers in sickle cell disease management: a scoping review.

Journal of community genetics
2026

A maximal-coverage approach to prioritizing newborn sickle cell screening sites in Uganda using a sickle cell-malaria co-risk surface.

Malaria journal
2026

FAIR data gaps and collaboration willingness among hemoglobinopathy research centers.

Scientific data
2026

Nasopharyngeal Microbiome Composition and its Clinical Correlates in Children Hospitalized with Severe Pneumonia in East Africa.

The Journal of infectious diseases
2026

Current Status of Clinical Gene Therapy for Hemophilia and Globin Disorders.

Journal of blood medicine
2026

Neurological Complications in Sickle Cell Disease: Clinical, Analytical and Radiological Correlations in a Multicentre Cohort.

Hemoglobin
2026

Genetic blood disorder status awareness and factors influencing willingness or reluctance to undergo premarital screening among young adults in Ahafo Region, Ghana: a cross-sectional survey.

Journal of health, population, and nutrition
2026

Upper Limb Edema as Predictor of Difficult Peripheral Intravenous Cannulation.

Journal of infusion nursing : the official publication of the Infusion Nurses Society
2026

Host iron deficiency protects against Plasmodium infection and drives parasite molecular reprofiling.

Science advances
2026

Alterations of Plasma Metabolites Associated with Sickle Cell Trait.

Clinical journal of the American Society of Nephrology : CJASN
2026

Genetic Contribution to Asthma Informs Acute Chest Syndrome Pathophysiology and Risk Stratification.

American journal of hematology
2026

Diagnosis and Management of Acute Chest Syndrome in Children With Sickle Cell Disease.

American journal of hematology
2026

Physiologically Based Pharmacokinetic Modelling of Hydroxyurea in Patients with Sickle Cell Disease: A Special Focus on Lactating Women and Breastfed Infants to Inform Safe Dosing and Breastfeeding Strategies.

Pharmaceuticals (Basel, Switzerland)
2026

Genomic Characterization of Salmonella Isolates Causing Infections in Children with Sickle Cell Disease in Dakar, Senegal.

Microorganisms
2026

Curative Approach to the Treatment of Beta-Thalassemia and Sickle Cell Disease with Hematopoietic Stem Cell Transplantation.

Journal of clinical medicine
2026

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.

Journal of clinical medicine
2026

Sickle Cell Disease and Male Infertility: Pathophysiological Mechanisms, Clinical Manifestations, and Fertility Preservation Strategies-A Narrative Review.

Life (Basel, Switzerland)
2026

Prevalence and Predictors of Priapism Among Patients with Sickle Cell Disease: A Cross-Sectional Study.

Medicina (Kaunas, Lithuania)
2026

Fetal Hemoglobin Modulation in Sickle Cell Disease: βs Haplotypes, Key Polymorphisms Identified by GWAS, and Advances in γ-Globin Editing: An Updated Overview.

Genes
2026

Medically Unnecessary Venipuncture in Autism Spectrum Disorder Behavior Assessments.

Pediatric emergency care
2026

Cost-effectiveness of gene therapy for sickle cell disease in Uganda: tailoring high-income evidence to Uganda's context.

Gene therapy
2026

Inflammatory markers in sickle cell disease during vaso-occlusive crisis.

Blood cells, molecules &amp; diseases
2026

Diagnostic accuracy of the sickle SCAN® rapid test for neonatal screening of sickle cell disease in Lubumbashi, Democratic Republic of the Congo.

Annals of hematology
2026

Minutes Matter: An Audit of the Timeliness of Opioid Administration for Sickle Cell Disease Pain in the Emergency Department and Association With Disposition.

American journal of hematology
2026

Rethinking Sickle Cell Disease as a Systemic Vasculopathy.

Cells
2026

Pregnancy-Triggered Vaso-Occlusive Crises in Hemoglobin SE Disease Complicated by Glucose-6-Phosphate Dehydrogenase Deficiency: A Case Report.

Cureus
2026

Three-year safety, efficacy, and renal outcomes of mitapivat treatment in sickle cell disease: results from the phase 2 open-label study.

Haematologica
2026

Haploidentical transplantation in sickle cell disease: toward donor availability for all patients.

Haematologica
2026

Pyruvate Kinase Activators for Sickle Cell Disease: An Exploratory Systematic Review and Meta-Analysis.

Hemoglobin
2026

Emerging Considerations in Transfusion Medicine: Hematopoietic Stem and Progenitor Cell Collection for Gene Therapy for Sickle Cell Disease and Transfusion-Dependent Thalassemia.

Clinics in laboratory medicine
2026

Expanding the Blood Donor Pool: An Update to Initiatives to Increase New Donor Participation.

Clinics in laboratory medicine
2026

Feasibility and Characteristics of Systematic Transcranial Doppler in Adults With Sickle Cell Disease: A Cross-Sectional Single Center Study.

American journal of hematology
2026

Haematological Profile of Patients with Sickle Cell Disease in the Acholi Sub-Region, Uganda.

Journal of blood medicine
2026

Urinary carbonic anhydrase 1 excretion is a marker of hemolysis-triggering conditions suitable for point-of-care testing.

Blood global hematology
2026

Complex HBB gene editing outcomes revealed by a fluorescent reporter cell model.

Molecular therapy. Nucleic acids
2026

Contemporary Trends, In-Hospital Outcomes, and Adverse Prognosticators of Sickle Cell Patients with Cardiovascular and Thromboembolic Complications: A National Database Analysis.

Angiology
2026

Cerebral Fat Embolism Syndrome in Homozygous Sickle Cell Disease Treated With Therapeutic Plasma Exchange and Simple Transfusions.

Journal of clinical apheresis
2026

Assessment and Benchmarking of Model Informed Approaches in Drug Development for Hemoglobinopathies: A Review of Scientific Advices From January 2000 to December 2024.

CPT: pharmacometrics &amp; systems pharmacology
2026

Radiomic Features Extracted from Magnetic Resonance Imaging to Identify Arteriopathy in a Humanized Mouse Model of Sickle Cell Anemia and Sickle Cell Trait.

Annals of biomedical engineering
2026

Evaluation of the Neuropathic Component of Pain in Sickle Cell Disease.

Hemoglobin
2026

Addressing Primary Care Needs in People Living With Sickle Cell Disease : A Narrative Review.

Annals of internal medicine
2026

Cost-effectiveness of exagamglogene autotemcel gene-edited therapy in patients with sickle cell disease with recurrent vaso-occlusive crises in the United States.

Journal of medical economics
2026

Does self-compassion moderate the relationship between stigma, pain and psychological well-being among people living with sickle cell disease in Ghana?

PLOS mental health
2026

ACR Appropriateness Criteria® Chest Pain-Child.

Journal of the American College of Radiology : JACR
2026

Temporal trends and determinants of ED visits in sickle cell disease: a multicenter EHR study from Saudi Arabia (2016-2021).

Frontiers in medicine
2026

Non-aneurysmal Subarachnoid Hemorrhage in an Adult With Sickle Cell Anemia: A Case Report and Review of the Literature.

Cureus
2026

Impact of HBS1L-MYB Gene Single Nucleotide Polymorphisms on Fetal Hemoglobin Expression in Moroccan Sickle Cell Anemia Children: Preliminary Results.

Indian journal of hematology &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion
2026

Unveiling Bone Health in Sickle Cell Disease: A Comprehensive Analysis of Bone Mineral Density.

Indian journal of hematology &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion
2026

Reproductive Health in Women with Sickle Cell Disease: A Cross-Sectional Study from Endemic Tribal Regions of India.

Indian journal of hematology &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion
2026

Evaluation of Diagnostic Accuracy of Sickle SCAN™, and Gazelle™ for Screening Hemoglobin S in india.

Indian journal of hematology &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion
2026

Cross-Cultural Adaptation, Reliability and Validity of MOS Short Form Health Survey (SF-36) in Sickle Cell Disease Patients in India.

Indian journal of hematology &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion
2026

Gene Therapy for Sickle Cell Anemia in India - Current Status and Challenges.

Indian journal of hematology &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion
2026

Path To Sickle Cell Disease Elimination in India: from Precision Diagnostics and Comprehensive Care To Curative Horizons.

Indian journal of hematology &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion
2026

Sickle Cell Disease in Central India: Haematological and Clinical Insights from a Large Cohort of Patients.

Indian journal of hematology &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion
2026

Synergistic Potential of Thalidomide and Hydroxyurea in Sickle Cell Disease Management: A Promising Combination Therapy.

Indian journal of hematology &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion
2026

Indian College of Hematology (ICH)& Indian Council of Medical Research (ICMR) Joint Consensus Document on Management and Control of Sickle Cell Disease in India.

Indian journal of hematology &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion
2026

Artificial Intelligence Applications in Sickle Cell Retinopathy Imaging: Current Progress, Challenges, and Future Directions.

Journal of ophthalmology
2026

Quantifications of CD4+ T-Lymphocytes levels in adult sickle cell patients: Examining immunological vulnerability and Vaso-Occlusive crises in a low-resource setting, northwestern Nigeria.

Oxford open immunology
2026

Prevalence of mental health conditions among individuals with sickle cell disease in Texas Medicaid.

Expert review of hematology
2026

Newborn screening for sickle cell disease in Angola: Implementation challenges and emerging data on hemoglobinopathy prevalence.

Blood cells, molecules &amp; diseases
2026

Exercise training adaptations on cardiorespiratory fitness and quality of life of patients with sickle cell disease: A systematic review.

Blood cells, molecules &amp; diseases
2026

Generation of two isogenic sickle cell disease induced pluripotent stem cell lines from ovarian fibroblasts.

Stem cell research
2026

The Sickle Africa Data Coordinating Centre (SADaCC): a data science hub for interdisciplinary sickle cell disease research and training.

Database : the journal of biological databases and curation
2026

Sickle Cell Vaso-Occlusive Episodes Correlates with the Magnetic Heterogeneity of Red Blood Cell.

Blood advances
2026

Newborn Screening for Hemoglobinopathies and Thalassemias: Brief History, Recent Activities, and Global Status-2026.

International journal of neonatal screening
2026

Integrated Newborn Screening in Nigeria: The Way Forward, A Workshop Report.

International journal of neonatal screening
2026

Advances and Gaps in Global Newborn Screening for Sickle Cell Disease.

International journal of neonatal screening
2026

Traumatic Spinal Cord Infarction Associated With Elevated Intracranial and Intraspinal Pressure in a Pediatric Patient: A Case Report and Review of the Literature.

Cureus
2026

Transition Readiness Assessment Questionnaire: A Tool Associated With Transfer Success for Adolescents and Young Adults Living With Sickle Cell Disease?

EJHaem
2026

Circulating angiogenesis-related biomarkers in sickle cell retinopathy and maculopathy.

British journal of haematology
2026

Narratives unveil knowledge and awareness-related issue, reinforcing patients' self-identity in sickle cell disease.

Orphanet journal of rare diseases
2026

Low-dose aspirin for preventing intrauterine growth restriction and pre-eclampsia in sickle cell pregnancy in Nigeria (PIPSICKLE): a randomised controlled trial.

The Lancet. Global health
2026

Risk of vaso-occlusive crisis requiring hospitalization in sickle cell disease patients in brazil: retrospective cohort study of real-world data.

Annals of hematology
2026

Novel use of genicular and vastus intermedius blocks for refractory knee pain in sickle cell disease.

Saudi journal of anaesthesia
2026

New consensus statement issued for sickle cell disease.

The American journal of nursing
2026

Pregnancy outcomes among medically complex populations with high risk of pregnancy mortality in Virginia: a retrospective observational study.

BMC medicine
2026

G-CSF for Mobilizing CD34+ Cells in Individuals With SCD: A Word of Caution.

American journal of hematology
2026

Comparison of Mortality and Complications After Total Hip Arthroplasty in Patients with Sickle Cell Disease: A Retrospective Match-Controlled Study from Türkiye.

Turkish journal of haematology : official journal of Turkish Society of Haematology
2026

Exploring the temporal relationship between psychosocial risk factors and recurrent ischemic priapism.

Sexual medicine
2026

Interventions to Prevent Post-Discharge Mortality among Children in Sub-Saharan Africa: A Systematic Review.

The American journal of tropical medicine and hygiene
2026

Safety and effectiveness of voxelotor in individuals with sickle cell disease in the RETRO and PROSPECT US registries.

Blood advances
2026

Adding to the Sickle Cell Disease Burden: Rising Hydroxyurea Costs Demand Action.

Pediatric blood &amp; cancer
2026

The emerging role of complement inhibitory approaches in the treatment of acute sickle cell disease complications.

Expert review of hematology
2026

Improving endpoints for sickle cell disease clinical trials: retaining consistency and clinical benefit.

Expert review of hematology
2026

Gut microbiome profile among children and adolescents living with sickle cell disease: a protocol for systematic review and meta-analysis.

BMJ open
2026

A novel palmitoylethanolamide formulation improves hyperalgesia and red cell instability in murine sickle cell disease.

Blood vessels, thrombosis &amp; hemostasis
2026

Sickle Cell Crisis-Induced Painless Bilateral Orbital Bone Infarction: A Case Report.

Case reports in ophthalmology
2026

A rare case of pediatric autoimmune pancreatitis and autoimmune hepatitis in a patient with sickle cell disease.

JPGN reports
2026

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

Cureus
2026

Priapism as an Initial Presentation of Sickle Cell Disease: A Case Report.

Cureus
2026

Correlation between diffuse correlation spectroscopy and transcranial Doppler ultrasound in pediatric sickle cell disease.

Biomedical optics express
2026

Laboratory and genetic characteristic associated with gallbladder-related outcomes in sickle cell disease in Brazil: results from the REDS-III multicenter cohort study.

Annals of hematology
2026

Long-term Follow-up After Mixed Donor Myeloid Chimerism at 1 Year Post Transplantation for Sickle Cell Disease.

Transplantation and cellular therapy
2026

Strategies and innovations in hypertension management for sickle cell patients: A narrative review.

Medicine
2026

One cell at a time: HbF distribution in sickle cell disease.

Blood advances
2026

miRNA-Mediated Regulation of γ-Globin to β-Globin Switching: Therapeutic Potential in β-Hemoglobinopathies.

International journal of molecular sciences
2026

Red Blood Cells in Normal and Pathological States: Redox Reactions of Hemoglobin.

Molecules (Basel, Switzerland)
2026

Gynecologic and Reproductive Health in Patients with Sickle Cell Disease: Underrecognized Challenges and Care Management Opportunities.

Journal of clinical medicine
2026

Toward AI-Assisted Sickle Cell Screening: A Controlled Comparison of CNN, Transformer, and Hybrid Architectures Using Public Blood-Smear Images.

Diagnostics (Basel, Switzerland)
2026

Screening for sickle cell retinopathy: A comparison of systematic angiography and ultra-widefield imaging.

Journal francais d'ophtalmologie
2026

Heart starts suffering early in sickle cell disease.

Haematologica
2026

Behçet's disease and avascular necrosis of the knees: a case report.

Annals of medicine and surgery (2012)
2026

From policy to practice: World Health Organization's contribution to safer blood transfusions in Africa for sickle cell management - a review.

Annals of medicine and surgery (2012)
2026

Heterozygous ABCC6 mutation in a patient with sickle cell disease: Pseudoxanthoma elasticum or pseudoxanthoma elasticum-like phenotype?

JAAD case reports
2026

Burden and outcomes of cardiovascular and pulmonary complications in adolescents and adults with sickle cell disease: a systematic review and meta-analysis.

Systematic reviews
2026

The Incidences of S and s Antigens of the MNS Blood Group System in the Western Region of Saudi Arabia.

Clinical laboratory
2026

Stroke burden and functional impacts in adults with sickle cell disease.

British journal of haematology
2026

Disseminated melioidosis complicated by osteomyelitis and pulmonary embolism in a patient with sickle cell disease and type 1 diabetes: A rare clinical triad.

Tropical doctor
2026

Multimodal imaging features to diagnose abdominal complications of sickle cell disease.

Abdominal radiology (New York)
2026

Effect 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 rehabilitation
2026

Chronic Pediatric Diseases in Remote Villages of French Guiana Over a 9-Year Period.

The American journal of tropical medicine and hygiene
2025

A call to integrate mental health support into Sickle Cell Disease care: The value of task-sharing in low- and middle-income countries.

PLOS mental health
2025

Exploring the quality of life of caregivers of children with sickle cell disease in a secondary health facility in Ghana.

Ghana medical journal
2026

A Qualitative Study of the Lived Experiences of Pregnancy and Childbirth: Unheard Voices of Black Women With Sickle Cell Disease.

SAGE open nursing
2026

Melioidosis in sickle cell hemoglobinopathies in eastern India: Cavitating pneumonia and immune susceptibility - a case series-based insight.

Indian journal of medical microbiology
2026

Platelet-neutrophil ratio as a potential biomarker for stroke risk stratification in children and young adults with sickle cell anaemia in resource poor settings.

Annals of hematology
2026

Epidemiological and comorbidity burden in transfusion-dependent patients with thalassemia and sickle cell disease in Greece.

Annals of hematology
2026

The β-goblin gene architecture in individuals with and without sickle cell disease in Nigeria: Implications for β-thalassaemia trait diagnosis.

African journal of laboratory medicine
2025

Validation of a Pediatric Cognitive Assessment Tool to Advance Knowledge on Children's Cognitive Development, Health Risk Factors, and Health-promoting Interventions in Sub-Saharan Regions.

Innovations in clinical neuroscience
2026

Effectiveness of psychological interventions for children eligible for pediatric palliative care: systematic review and meta-analysis.

BMC pediatrics
2026

NLRP3 inflammasome-mediated platelet hyperreactivity in sickle cell mice is targetable by BTK inhibition.

Biochemical and biophysical research communications
2026

Effectiveness of preimplantation genetic testing in sickle cell disease: insights from a single-center experience.

Journal of assisted reproduction and genetics
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Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Iron overload damages mitochondria and induces metabolic rewiring of hematopoietic stem cells towards glycolysis.
    Blood· 2026· PMID 41878806mais citado
  2. Cystic Fibrosis and Sickle Cell Disease Associated with Non-administration of VTE Prophylaxis in Hospitalized Adults.
    Blood advances· 2026· PMID 41875236mais citado
  3. Technology Access and Preferences for Smartphone App Interventions to Optimize Iron Chelation Therapy Adherence Among Adolescents, Young Adults, and Parents of Children Receiving Chronic Transfusions: Cross-Sectional Survey Study.
    JMIR pediatrics and parenting· 2026· PMID 41875070mais citado
  4. Nonmyeloablative pentostatin-cyclophosphamide preconditioning improves rates of engraftment in adults undergoing haploidentical HCT for sickle cell disease.
    PloS one· 2026· PMID 41871072mais citado
  5. Novel use of a Hash-Based Tokenization for Sharing Sickle Cell Disease Data Without Sharing PHI.
    Blood advances· 2026· PMID 41860383mais citado
  6. Periprosthetic Joint Infection With Salmonella Species 2 Years After Unicompartmental Knee Arthroplasty Treated With Debridement, Antibiotics, and Implant Retention (DAIR): A Case Report and Review of the Literature.
    Case Rep Orthop· 2026· PMID 41994567recente
  7. Management of hematogenous osteomyelitis in children in Douala, Cameroon: diagnostic challenges, complications, and perspectives for improvement.
    Front Pediatr· 2026· PMID 41993893recente
  8. Decoupling Detection and Classification to Improve Morphological Phenotype Analysis of Sickle Red Blood Cells in Full-Scope Microscopy.
    bioRxiv· 2026· PMID 41993330recente
  9. Advancing Pain Care for Individuals with Sickle Cell Disease: Two Innovative Psychological Approaches.
    J Clin Psychol Med Settings· 2026· PMID 41991823recente
  10. A genetic risk score based on BCL11A and HBS1L-MYB variants predicts clinical severity in Brazilian sickle cell anaemia patients.
    Br J Haematol· 2026· PMID 41989145recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:275752(Orphanet)
  2. MONDO:0017146(MONDO)
  3. Doenca Falciforme(PCDT · Ministério da Saúde)
  4. Busca completa no PubMed(PubMed)
  5. Artigo Wikipedia(Wikipedia)
  6. Q185034(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Anemia falciforme
Compêndio · Raras BR

Anemia falciforme

ORPHA:275752 · MONDO:0017146
🇧🇷 Brasil SUS
Triagem
Eletroforese de hemoglobinas / HPLC
PNTN
Fase 1 · Nacional
Incidência BR
1:1.000 (afrodescendentes), 1:3.500 (geral)
CEAF
1BHidroxiureia1AVoxelotorCrizanlizumabeExagamglogene autotemcel+1 mais
Internações
42.356/ano
Prevalência BR
1:1000 (afrodescendentes)
Custo SUS
R$ 2.848/internação
Dados
DATASUS 2024
Geral
CID-10
D57.0 · Anemia falciforme com crise
Ensaios
33 ativos
MedGen
UMLS
C0002895
Wikidata
Wikipedia
Papers 10a
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