Raras
Buscar doenças, sintomas, genes...
Anemia de células falciformes
ORPHA:232CID-10 · D57.0CID-11 · 3A51.1OMIM 603903DOENÇA RARA

As anemias falciformes são doenças hemolíticas crônicas que podem induzir três tipos de acidentes agudos: anemia grave, infecções bacterianas graves e acidentes vasooclusivos isquêmicos (AVO) causados ​​por hemácias em forma de foice que obstruem pequenos vasos sanguíneos e capilares. Muitas complicações diversas podem ocorrer.

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Introdução

O que você precisa saber de cara

📋

As anemias falciformes são doenças hemolíticas crônicas que podem induzir três tipos de acidentes agudos: anemia grave, infecções bacterianas graves e acidentes vasooclusivos isquêmicos (AVO) causados ​​por hemácias em forma de foice que obstruem pequenos vasos sanguíneos e capilares. Muitas complicações diversas podem ocorrer.

Pesquisas ativas
33 ensaios
1170 total registrados no ClinicalTrials.gov
Publicações científicas
7.373 artigos
Último publicado: 2026 Apr 14
Medicamentos
11 registrados
VOXELOTOR, CRIZANLIZUMAB, HYDROXYUREA

Tem tratamento?

11 medicamentos registrados
Ver detalhes, fases e interações →
VOXELOTORCRIZANLIZUMABHYDROXYUREAALEMTUZUMABPRASUGRELAPIXABANRIVIPANSELDEXAMETHASONETICAGRELORHYDROMORPHONE

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-5 / 10 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
30.0
United States
Início
All ages
🏥
SUS: Cobertura parcialScore: 50%
5 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
Você se identifica com essa condição?
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🩸
Sangue
8 sintomas
🫃
Digestivo
4 sintomas
🦴
Ossos e articulações
3 sintomas
🫘
Rins
3 sintomas
👁️
Olhos
2 sintomas
🛡️
Imunológico
2 sintomas

+ 23 sintomas em outras categorias

Características mais comuns

100%prev.
Anemia hemolítica crônica
90%prev.
Dor
Muito frequente (99-80%)
90%prev.
Anemia hemolítica
Muito frequente (99-80%)
90%prev.
Infecções recorrentes
Muito frequente (99-80%)
55%prev.
Icterícia
Frequente (79-30%)
55%prev.
Osteoporose
Frequente (79-30%)
49sintomas
Muito frequente (4)
Frequente (13)
Ocasional (17)
Muito raro (3)
Sem dados (12)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 49 características clínicas mais associadas, ordenadas por frequência.

Anemia hemolítica crônicaChronic hemolytic anemia
Muito frequente100%
DorPain
Muito frequente (99-80%)90%
Anemia hemolíticaHemolytic anemia
Muito frequente (99-80%)90%
Infecções recorrentesRecurrent infections
Muito frequente (99-80%)90%
IcteríciaJaundice
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico7.373PubMed
Últimos 10 anos200publicações
Pico2025128 papers
Linha do tempo
2026Hoje · 2026🧪 1977Primeiro ensaio clínico📈 2025Ano de pico
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.

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

1 gene identificado com associação a esta condição. Padrão de herança: Autosomal recessive.

HBBHemoglobin subunit betaDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Involved in oxygen transport from the lung to the various peripheral tissues LVV-hemorphin-7 potentiates the activity of bradykinin, causing a decrease in blood pressure Functions as an endogenous inhibitor of enkephalin-degrading enzymes such as DPP3, and as a selective antagonist of the P2RX3 receptor which is involved in pain signaling, these properties implicate it as a regulator of pain and inflammation

LOCALIZAÇÃO

VIAS BIOLÓGICAS (1)
Chaperone Mediated Autophagy
MECANISMO DE DOENÇA

Heinz body anemias

Form of non-spherocytic hemolytic anemia of Dacie type 1. After splenectomy, which has little benefit, basophilic inclusions called Heinz bodies are demonstrable in the erythrocytes. Before splenectomy, diffuse or punctate basophilia may be evident. Most of these cases are probably instances of hemoglobinopathy. The hemoglobin demonstrates heat lability. Heinz bodies are observed also with the Ivemark syndrome (asplenia with cardiovascular anomalies) and with glutathione peroxidase deficiency.

EXPRESSÃO TECIDUAL(Ubíquo)
Sangue
267405.0 TPM
Baço
3152.1 TPM
Pulmão
1300.8 TPM
Adipose Visceral Omentum
607.7 TPM
Rim - Medula
605.7 TPM
OUTRAS DOENÇAS (21)
sickle cell diseasebeta-thalassemia HBB/LCRBdominant beta-thalassemiahemoglobin M disease
HGNC:4827UniProt:P68871

Medicamentos e terapias

VOXELOTORPhase 4

Mecanismo: Hemoglobin HbA positive modulator

CRIZANLIZUMABPhase 4

Mecanismo: P-selectin blocker

HYDROXYUREAPhase 4

Mecanismo: Ribonucleoside-diphosphate reductase RR1 inhibitor

ALEMTUZUMABPhase 3

Mecanismo: CAMPATH-1 antigen inhibitor

PRASUGRELPhase 3

Mecanismo: Purinergic receptor P2Y12 antagonist

APIXABANPhase 3

Mecanismo: Coagulation factor X inhibitor

RIVIPANSELPhase 3

Mecanismo: Selectin E antagonist

DEXAMETHASONEPhase 3

Mecanismo: Glucocorticoid receptor agonist

TICAGRELORPhase 3

Mecanismo: Purinergic receptor P2Y12 negative allosteric modulator

HYDROMORPHONEPhase 3

Mecanismo: Mu opioid receptor agonist

Ver mais no OpenTargets

Variantes genéticas (ClinVar)

615 variantes patogênicas registradas no ClinVar.

🧬 HBB: NM_000518.5(HBB):c.127T>A (p.Phe43Ile) ()
🧬 HBB: NM_000518.5(HBB):c.-48A>T ()
🧬 HBB: NM_000518.5(HBB):c.325A>C (p.Asn109His) ()
🧬 HBB: NM_000518.5(HBB):c.331del (p.Leu111fs) ()
🧬 HBB: NM_000518.5(HBB):c.84_90del (p.Leu29fs) ()
Ver todas no ClinVar

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
Aprovado4
3Fase 310
2Fase 27
1Fase 12
·Pré-clínico7
Medicamentos catalogadosEnsaios clínicos· 10 medicamentos · 20 ensaios
✓ Aprovados — podem ser usados hoje
VOXELOTORCRIZANLIZUMABHYDROXYUREA
Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Anemia de células falciformes

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

🟢 Recrutando agora

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

Outros ensaios clínicos

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Publicações mais relevantes

Timeline de publicações
2.433 papers (10 anos)

Mostrando amostra de 200 publicações de um total de 2.433

#1

Genetic and Functional Insights into F-Cell Distribution in Sickle Cell Anemia: A Genome-Wide Association Study Approach.

Indian journal of hematology &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion2026 Mar

Sickle cell anemia (SCA) is a severe hereditary disorder characterized by hemoglobin polymerization, vaso-occlusion, and chronic hemolysis. The distribution of F-cells, which retain fetal hemoglobin (HbF), plays a crucial role in mitigating disease severity. Genome-wide association studies (GWAS) have identified genetic determinants influencing F-cell persistence, yet the underlying mechanisms require further elucidation. This study aims to analyse publicly available GWAS data to identify key genetic loci associated with F-cell distribution in SCA, assess their biological relevance, and explore potential therapeutic implications. GWAS data were extracted from publicly available repositories and analysed for significant single nucleotide polymorphisms (SNPs) associated with F-cell levels. Functional enrichment analysis was performed using Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis. Transcription factor (TF) interactions, microRNA (miRNA) regulation, and protein-protein interactions (PPI) were explored to understand the molecular mechanisms governing HbF expression. The study identified BCL11A, HBS1L-MYB, and β-globin cluster polymorphisms as primary regulators of F-cell distribution. Functional analysis highlighted pathways related to erythropoiesis, chromatin remodelling, and transcriptional regulation. miRNA-target interactions and epigenetic modifiers emerged as critical determinants of HbF persistence. These findings provide insights into the genetic regulation of F-cell distribution, reinforcing the therapeutic potential of HbF modulation. Future studies should focus on functional validation and targeted interventions to enhance HbF expression in SCA. The online version contains supplementary material available at 10.1007/s12288-025-02127-3.

#2

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 Transfusion2026 Mar

Fetal hemoglobin (HbF) expression is a key modifier of sickle cell disease (SCD) severity, and the HBS1L-MYB intergenic region is a critical regulator of HbF levels. However, the impact of HBS1L-MYB polymorphisms and HbF levels in Moroccan populations remains underexplored. This work aimed to investigate the population-specific distribution of three HBS1L-MYB polymorphisms (rs28384513, rs4895441, and rs9402686) in 160 Moroccan children, including 80 with SCD (1-15 years) and 80 healthy controls. The SCD group was further divided into two groups based on HbF levels (< 15% and ≥ 15%). DNA genotyping was performed using PCR-RFLP analysis. Retrospective demographic and hematological data were collected to assess the association between these SNPs and HbF levels. Significant associations were found between rs28384513 and red blood cell count (p = 0.009), rs4895441 and mean corpuscular haemoglobin (p = 0.02), and rs9402686 with both hemoglobin (p = 0.001) and HbF levels (p = 0.003), confirming the significant influence of this SNP on HbF expression. These findings highlight the beneficial effect of rs9402686 on HbF expression. Investigating the large and genetically diverse cohort of Moroccan SCD will be essential for a deeper understanding of the molecular mechanisms underlying these polymorphisms and for identifying new disease modifier genes.

#3

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 Transfusion2026 Mar

Sickle cell disease (SCD) is a critical monogenic disorder impacting millions of people in India and severely compromising the quality of life for the patients. At present, the only available curative treatment for sickle cell disease (SCD) is allogenic hematopoietic stem cell transplantation. However, recent advancements in gene therapy offer promising prospects for curing the disease, either through the correction of the pathogenic mutation or the induction of Fetal hemoglobin production. This review focuses on the gene addition and gene editing technologies being currently employed in the treatment of SCD, with a particular emphasis on therapeutic interventions that are undergoing clinical trials globally. Furthermore, this review provides an insight into the extensive research efforts being undertaken in India to develop curative therapies for SCD, while also addressing the significant challenges faced by the healthcare system and patients, including ethical, socio-economic, and regulatory barriers unique to the Indian context.

#4

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

Orphanet journal of rare diseases2026 Feb 19

Sickle cell disease (SCD) increasingly requires a holistic approach. Narratives have been used to complement clinical and observational findings related to quality of life (QoL). The "Sickle Cell Anemia Narrations" project aimed to help frame the illness burden and QoL of the multi-ethnic population with SCD in Italy via a narrative approach. Twenty-one adult patients with SCD and 10 informal caregivers from seven SCD centers and two Patient Associations volunteered for this project. Researchers collected anonymous narratives and independently analyzed them through content analysis. Lack of SCD knowledge on multiple levels was found to strongly impact the illness experience independent of ethnicity. Fear of stigma at school, the challenging management of vaso-occlusive crises, and a lack of SCD knowledge at the workplace were reported. Fifty-five percent of participants reported a lack of SCD knowledge among healthcare professionals working outside the expert centers and 33% reported misdiagnosis. Caregivers highlighted the lack of coordination among territorial healthcare facilities. Our findings confirm that SCD represents a critical burden for patients and caregivers and indicate that lack of SCD knowledge may bolster the barriers to care, thus revealing the urgent need to enhance awareness to foster inclusion and quality of care.

#5

Magnitude of Involvement of Peripheral Nervous System in Sickle Cell Anemia Patients in Vaso-Occlusive Crisis.

Indian journal of hematology &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion2026 Jan

Sickle cell disease is an inborn genetic blood disorder that is usually found among residents of Africa, Middle-East Gulf countries, and India. There has been increased knowledge and awareness of the range of neurological complications of Sickle cell disease (SCD) over the past 20 years. Silent neurologic involvement may occur in SCD and there's an opportunity of subclinical involvement in these patients presenting with vasoocclusive crisis. The case-control study was carried out after getting the institutional ethical clearance and obtaining consent from the patients and the controls. They were subjected to nerve conduction studies. Nerve conduction study was performed on median and tibial nerves for motor nerves, and median and sural for sensory nerves unilaterally. The nerves of the upper limb showed changes in neuropathy. The lower limb nerves were completely normal. In our study, we found out that Distal motor latency (DML) is prolonged in the Median motor nerve in cases as compared to controls suggesting motor neuropathy, and Sensory nerve action potential (SNAP) is reduced in the median sensory nerve suggesting sensory neuropathy. The nerve conduction studies in the tibial nerve were normal, suggesting subclinical neuropathy could be present in the patients with sickle cell presenting as mononeuropathy or mononeuritis multiplex. Our study also found a statistically significant correlation of neuropathy with the increasing number of hospital admissions for the vaso-occlusive crisis. Subclinical neuropathy is another manifestation of nervous system in patients with SCD and one should give adjuvant therapy of membrane stabilizing agents for the relief of pain. Detailed studies of this complication must be required further to evaluate its significance in clinical practice. We also conclude the aches and the pain the patient of sickle cell disease complains could not be always due to vaso-occlusive crisis, it could be the neuropathic pain which might mimic the ischemic pain.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC4.225 artigos no totalmostrando 194

2026

Design, Synthesis and Anti-Sickling Activity of some Novel Analogs of Isoindoline-1,3-dione.

Biotechnology and applied biochemistry
2026

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

American journal of hematology
2026

Angiotensin signaling is essential for stress erythropoiesis but causes retention of dysfunctional mitochondria in RBCs.

JCI insight
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

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

American journal of hematology
2026

Phase I study of the safety and pharmacokinetics of CSL889 (hemopexin) in adults with sickle cell anemia.

Haematologica
2026

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

Haematologica
2026

Exploring plasma microRNA profiling and signaling pathways in comorbidity-free sickle cell anemia: a pilot case-control study.

BMC research notes
2026

Magnetic resonance imaging evaluation of myocardial and hepatic tissue remodeling and cardiac function in sickle cell anemia.

Diagnostic and interventional radiology (Ankara, Turkey)
2026

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

Cureus
2025

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

The Pan African medical journal
2026

Genetics and Genomics in Sickle Cell Disease in Africa.

American journal of hematology
2026

From Iron Deficiency to Overload: A Missing Link in the Mechanisms of Cardiac Autonomic Nervous System Dysfunction.

Journal of clinical medicine
2026

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

BMC health services research
2026

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

TheScientificWorldJournal
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

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

EJHaem
2026

Utility of First-Line Diagnostic Tests and Molecular Methods for Accurate Characterization of Sickle Cell Disorders.

International journal of laboratory hematology
2026

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

Clinics in laboratory medicine
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

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

Cureus
2026

Genetic and Functional Insights into F-Cell Distribution in Sickle Cell Anemia: A Genome-Wide Association Study Approach.

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

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

Artificial Intelligence-Based Analysis of Central Nervous System Vasculopathy in Pediatric Sickle Cell Anemia.

American journal of hematology
2026

Between crises and care: Childhood realities with sickle cell Anemia: A qualitative study.

Journal of pediatric nursing
2026

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

International journal of neonatal screening
2026

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

Orphanet journal of rare diseases
2026

Fulminant hepatitis secondary to dengue in pediatric patients: a series of four cases.

Revista do Instituto de Medicina Tropical de Sao Paulo
2026

A Digital Patient Engagement and Monitoring System to Improve Quality, Safety, and Continuity of Care for Pediatric Sickle Cell Anemia: A Cross-Sectional Study of Caregiver Perceptions.

Cureus
2026

Accelerated brain atrophy in sickle cell anemia despite chronic exchange transfusion therapy-A case report.

Radiology case reports
2026

The GLOBE Trial: Efficacy and Safety of L-Glutamine Plus Hydroxyurea Versus Hydroxyurea Alone in Sickle Cell Anemia - A Double-Blind, Randomized Study.

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

Dose-dependent effects of diamide and glutaraldehyde on red blood cell deformability, viscosity, and morphology.

Microvascular research
2026

Increasing daily step counts improves physical fitness, reduces pain and arterial stiffness in sickle cell patients.

Haematologica
2025

Weeping Wound, Disgruntled Gut and Fading Hunger: Acrodermatitis Enteropathica in an Infant.

Cureus
2025

AI-assisted diagnosis of anemia through peripheral smear image analysis: A cross-validation study.

Bioinformation
2026

Patterns of hormonal contraception use in women with sickle cell disease and employer-sponsored insurance.

Contraception
2026

Increased Endothelin-1 and High-Risk APOL1 Variants Contribute to Albuminuria in Pediatric and Young Adults with Sickle Cell Anemia.

Clinical journal of the American Society of Nephrology : CJASN
2026

Adaptation of lentiviral vectors for viral gene therapy and their impact on host cell biology.

Journal of translational medicine
2026

Biomarkers for the diagnosis and phenotyping of acute chest syndrome in patients with sickle cell disease.

Expert review of respiratory medicine
2026

Sickle Cell Disease at a Tertiary Care Center in the Vidarbha Region of India: Protocol for a Clinical and Observational Study.

JMIR research protocols
2026

Liquid Hydroxyurea (Xromi) for Children With Sickle Cell Anemia: A New Solution Compounding Existing Problems.

Pediatric blood &amp; cancer
2026

Self-resolution of spontaneous epidural hematoma in sickle cell anemia: A case report.

Radiology case reports
2026

Cost-Effectiveness of Hydroxyurea for Treatment of Children With Sickle Cell Anemia in Ghana.

Value in health regional issues
2024

Identifying strokes in Nigerian children with sickle cell disease as part of clinical trials: training curriculum for healthcare professionals in low-income settings.

Frontiers in stroke
2026

Genotype Differences and Hydroxyurea Utilization Among Adults With Moderate to Severe Sickle Cell Disease.

Pharmacotherapy
2026

Magnitude of Involvement of Peripheral Nervous System in Sickle Cell Anemia Patients in Vaso-Occlusive Crisis.

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

Health-related quality of life and adherence to hydroxyurea in patients with sickle cell anemia in Saudi Arabia.

Medicine
2026

Sickle Cell Disease in Eastern Uttar Pradesh, India: Sociodemographic and Clinical Profile from a Previously Undocumented Area.

Journal of racial and ethnic health disparities
2025

Assessment of Urine Kidney Injury Molecule-1 as an Early Biomarker for Nephropathy in Sickle Cell Anaemia Patients.

Acta medica (Hradec Kralove)
2025

Assessing educational needs of sickle cell anemia healthcare providers in sub-Saharan Africa and the Caribbean.

Frontiers in public health
2025

Hydroxyurea utilization among individuals with sickle cell disease in Tennessee: a pooled analysis of claims data.

Frontiers in pharmacology
2026

Sustained expression of hemopexin in an animal model of sickle cell anemia.

Blood vessels, thrombosis &amp; hemostasis
2026

Mental Resilience, Satisfaction from Life, and Quality of Life of People with Hemoglobinopathies : Quality of Life of People with Haemoglobinopathies.

Advances in experimental medicine and biology
2025

Therapeutic applications of CRISPR-Cas9 gene editing.

Frontiers in genome editing
2025

Hydroxycarbamide and Sickle Cell Anemia: Paradoxical Effects Related to Redox Mechanisms of Cellular Adaptation.

ACS omega
2025

Efficacy of an Ayurvedic Intervention as an Adjunct to Standard Care in Preventing Acute Pain Crises in Sickle Cell Anemia: Protocol for a Randomized Controlled Trial.

JMIR research protocols
2025

Role of Automated Red Cell Exchange in Sickle Cell Anemia and Poisoning.

Annals of African medicine
2025

Iron, Oxidative Stress, and Haptoglobin Gene Polymorphism in Sickle Cell Disease Patients With Inflammation in Cameroon: An Analytical Cross-Sectional Study.

Biochemistry research international
2026

Low Use of FDA-Approved Medications for Sickle Cell Disease in Adults.

European journal of haematology
2025

Electrocardiographic abnormalities among children with sickle cell anaemia at steady state and crises attending federal teaching Hospital, Owerri, South East Nigeria.

BMC pediatrics
2026

Case report: Sea Fan Retinopathy, an ocular anomaly of interest.

Archivos de la Sociedad Espanola de Oftalmologia
2025

Fulminant Pneumococcal Meningitis With Neurovascular Complications in an Adult With Sickle Cell Anemia: A Case Report.

Cureus
2026

Targeting LncRNAs with CRISPR/Cas9 for Kidney Therapeutics: A Review.

International journal of biological macromolecules
2026

Feasibility and acceptability of a new adapted physical activity program for children with chronic disease: a pilot study.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
2026

Relation of Adverse Childhood Experiences to Clinical and Patient-Reported Outcomes for Adults With Sickle Cell Disease: A Registry Study.

Pediatric blood &amp; cancer
2026

Vitamin D receptor gene polymorphisms and 25-hydroxyvitamin D levels: association with cerebrovascular disease in sickle cell anemia.

Pediatric hematology and oncology
2025

Hydroxyurea to decrease stroke risk in children with sickle cell anemia: a systematic review and meta-analysis.

Blood global hematology
2026

Prolonged, Unintentional Overdose of Hydroxyurea in a Child With Sickle Cell Anemia.

Pediatric blood &amp; cancer
2025

Clinical presentation and outcomes of children hospitalized with sickle cell anemia at Gulu regional referral hospital, Uganda: a retrospective cross-sectional study.

Scientific reports
2025

Case Report: Complete Coverage Of Chronic Sickle Cell Leg Ulcer Using Hyperbaric Oxygen Therapy Combined With Skin Grafting.

Undersea &amp; hyperbaric medicine : journal of the Undersea and Hyperbaric Medical Society, Inc
2025

Early Intervention as a Way of Reducing Neurocognitive Delay in Pediatric Sickle Cell Patients.

Cureus
2025

Monocyte-red blood cell crosstalk supports clearance and heme metabolism in sickle cell anemia.

Frontiers in immunology
2025

Rare Coexistence of Hemoglobin D-Iran and Hemoglobin S in a Case from Central India.

Hemoglobin
2026

Acute Exercise Challenge and Airway Dynamics in Youth With Sickle Cell Anemia: A Multicenter Study.

American journal of hematology
2025

Chronic Hydroxyurea Therapy in Children with Sickle Cell Anemia: Mechanisms of Action, Systemic Effects, and Long-Term Safety.

Journal of clinical medicine
2025

Hydroxyurea Therapy in Sickle Cell Disease: Evaluating Healthcare Costs and Utilization in a Brazilian Tertiary Setting.

Blood global hematology
2026

Reversal of Echocardiographic Alterations Following Hematopoietic Stem Cell Transplantation in Children With Sickle-Cell Anemia.

American journal of hematology
2026

Albuminuria Predicts a Rapid Decline in Kidney Function in 2 International, Longitudinal Cohorts of Adults With Sickle Cell Anemia.

American journal of hematology
2025

Managing acute myeloid leukemia in the context of sickle cell anemia and suspected Fanconi anemia in Tanzania: a case report.

Journal of medical case reports
2026

Recent advancements in aptamer-mediated theranostics in the management of hematological disorders.

International journal of pharmaceutics
2026

Regional brain age is decreased in children with sickle cell anemia.

Blood advances
2025

Application of Artificial Intelligence in Sickle Cell Identification From Blood Smears: A Potential Game Changer for Developing Nations.

Cureus
2025

Longitudinal changes and predictors of cardiac extracellular volume fraction in sickle cell anemia.

Blood. Red cells &amp; iron
2025

Successful implementation of stroke risk screening for sickle cell anemia in the DISPLACE study: results of a cluster randomized trial.

Implementation science : IS
2026

[Priapism: current status and new insights].

Urologie (Heidelberg, Germany)
2025

Burden of sickle cell anemia in Africa: A systematic review and meta-analysis.

PloS one
2025

Efficacy of Filial Therapy on Pain and Health-Related Quality of Life of Children With Sickle Cell Disease in a Middle Eastern Country.

Pain management nursing : official journal of the American Society of Pain Management Nurses
2025

Impact of Hydroxyurea on Liver, Kidney, and Hematological Parameters in Sickle Cell Anemia Patients Above 15 Years Old in Sana'a City.

International journal of general medicine
2026

Association of hypertension and genetic variants in MYH9 and BMPR1B with increased proteinuria in sickle cell disease.

Clinical biochemistry
2025

Including malnourished siblings in treatment improves nutritional outcomes for children with sickle cell anemia in Northern Nigeria: Results from a feasibility trial.

Nutrition research (New York, N.Y.)
2025

Digestive autoimmune diseases mimicking gastrointestinal manifestations in children with sickle cell anemia: A report of three cases.

JPGN reports
2025

Multimodality, multidisciplinary approach to overcome technical challenges in a pediatric stem cell harvest for sickle cell disease with preformed donor-specific antibodies.

Asian journal of transfusion science
2025

Therapeutic red blood cell exchange in a sickle cell disease patient with acute bone pain crisis: Our experience in a tertiary care center.

Asian journal of transfusion science
2026

Clinical and laboratory manifestations and outcomes of human parvovirus B19 infections in sickle cell anemia with emphasis on the impact of hydroxyurea.

International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases
2025

Early risk factors for acute chest syndrome in sickle cell anemia: A pediatric study.

PloS one
2025

Pleiotropic Effects of Polymorphisms in the BCL11A Gene on Laboratory Parameters in Sickle Cell Anemia.

International journal of molecular sciences
2026

Publisher Correction: Performance of creatinine and cystatin C-based equations to estimate glomerular filtration rate in African children with sickle cell anemia.

Pediatric nephrology (Berlin, Germany)
2026

The Pediatric Clinician's Approach for Anxiety, Depression, and Suicide Ideation in Children with Sickle Cell Disease.

Pediatric clinics of North America
2026

Hydroxyurea for Children with Sickle Cell Disease: A Practical Guide for Pediatric Clinicians.

Pediatric clinics of North America
2025

Sickle cell anemia and social justice: a pathway to equitable healthcare in Uganda.

Annals of medicine and surgery (2012)
2025

3D printed hydroxyurea for pediatric use: toward personalized formulations and reduced exposure risk.

International journal of pharmaceutics
2025

Therapeutic drug monitoring of busulfan in pediatric patients: a 5-year observational study.

BMC pharmacology &amp; toxicology
2025

Clinical and Laboratory Correlates of Cerebral Blood Flow Velocities and Risks for Stroke Among Steady-State Sickle Cell Anemia Children: A Cross-Sectional Study.

Cureus
2025

First detection of echovirus 18 associated with aseptic meningitis in a child in Niger Republic, 2024: a case report.

BMC infectious diseases
2025

Thirty Years of Hydroxyurea for Sickle Cell Anemia - Scientific Progress, Global Health Gaps.

The New England journal of medicine
2025

Unexpected absence of fetal hemoglobin induction by lenalidomide in a patient with sickle cell anemia with concurrent multiple myeloma.

Orphanet journal of rare diseases
2025

Improved Preprocedure Hematocrit in Chronic RBC Exchange Patients Following Splenectomy: A Case Report.

Case reports in hematology
2026

Performance of creatinine and cystatin C-based equations to estimate glomerular filtration rate in African children with sickle cell anemia.

Pediatric nephrology (Berlin, Germany)
2025

Cerebral Blood Flow Decline in Adults With Sickle Cell Anemia: What Does It Mean and Is Treatment Required?

Neurology
2025

Cerebral Blood Flow in Children and Adults With Sickle Cell Anemia.

Neurology
2025

An extramedullary hematopoietic lesion causing acute lumbar stenosis in the setting of sickle cell anemia: a case report and review of the literature.

Journal of spine surgery (Hong Kong)
2025

Advances in nucleic acid probe-based detection of gene point mutations: a review.

Frontiers in chemistry
2025

Ten-Year Longitudinal Study Clarifies Impact of Hemolysis and Pulmonary Hypertension on Patients with Sickle Cell Anemia.

American journal of respiratory and critical care medicine
2026

Primary and secondary stroke prophylaxis in children with sickle cell anemia: a meta-analysis.

Blood advances
2025

Gender effect on Psychoacoustical abilities and Speech perception in noise in individuals with Sickle cell anemia.

Journal of otology
2025

Anticancer role of Gramicidin A in myeloid leukemia.

Discover oncology
2025

Radiologic Evaluation of Paranasal Sinuses in Sickle Cell Anemia and Thalassemia: Case-Control Study.

Laryngoscope investigative otolaryngology
2025

Microsensor Array for the Electrochemical Analysis of Hydroxyurea in Blood Samples of Children Affected by Sickle Cell Anemia.

Analytical chemistry
2025

Haplo-Identical Stem Cell Transplant Resolves Ventricular Arrhythmias and Dysfunction in a Sickle Cell Anemia Patient: Case Report and Discussion.

EJHaem
2025

Use of Incentive Spirometry to Prevent Acute Chest Syndrome (ACS) in Patients With Sickle Cell Disease (SCD): A Systematic Review.

Cureus
2025

Lived Experiences of Clinical Depression Among Adolescents With Sickle Cell Anemia in Dar-es-salaam, Tanzania: A Qualitative Study.

Research square
2026

Hydroxyurea pharmacokinetics in children with sickle cell anemia across different global populations.

Blood advances
2025

Rare Comorbidity of Sickle Cell Disease and Wilms' Tumor: A Case Report.

Case reports in medicine
2025

Severity patterns and predictors of sickle cell anaemia among Gambian children: A cross-sectional analysis.

Annals of hematology
2025

[Sickle cell disease, 2025].

Orvosi hetilap
2025

Hemoglobin SC Sickle Cell Disease Presenting as Acute Ischemic Stroke With Moyamoya Syndrome in an Adult: A Case Report.

Cureus
2025

Physiologically based pharmacokinetic modeling of hydroxyurea: Implications for dose adjustment in patients with renal insufficiency.

Journal of pharmaceutical sciences
2025

Non-invasive depiction of hepatic and myocardial iron overload using MRI.

La Clinica terapeutica
2025

Early Detection of Diastolic Dysfunction in Sickle Cell Anemia: Can It Help the Patient and Let Us See the Elephant in the Room?

American journal of hematology
2025

Lessons Learned From Provider Minder: A Provider Tracking Application for Improving Stroke Risk Screening in Sickle Cell Anemia.

Quality management in health care
2025

Morbidity and mortality of sickle cell disease in Côte d'Ivoire.

Annals of hematology
2025

A thyroid storm causing strokes and unmasking moyamoya.

Radiology case reports
2025

Metabolomics in sickle cell disease: Current knowledge and gaps - A scoping review.

Blood reviews
2025

The Economic Impact of Premarital Screening (PMS) of Sickle Cell Anemia on the Saudi Health System: A Cost Analysis Study.

Healthcare (Basel, Switzerland)
2025

Optimized protocol for intracellular labeling of red blood cells with anti-hemoglobin F for confocal microscopy analysis.

Micron (Oxford, England : 1993)
2025

Impact of TMPRSS6 gene polymorphism on iron overload among children with sickle cell disease.

Hematology/oncology and stem cell therapy
2025

Cohort Tracking of Sickle Cell Trait-Positive Births Identified by Newborn Screening, California, 1991-2013: Public Health Surveillance for Sickle Cell Trait.

Public health reports (Washington, D.C. : 1974)
2025

Screening for Hemoglobinopathies: An Inceptive Experience of Centre of Excellence for Sickle Cell Disease.

Indian pediatrics
2025

Use of Fructosamine for Glycemic Monitoring in Patients With Sickle Cell Disease and Diabetes: A Systematic Review.

Cureus
2025

Severe Hemolytic Phenotype in Children With Sickle Cell Anemia and Co-Inherited Red Blood Cell Variants.

Pediatric blood &amp; cancer
2025

Cost-Effectiveness Analysis of Crizanlizumab in Sickle Cell Disease in Iran.

Iranian journal of medical sciences
2025

Harnessing Drosophila melanogaster for biomedical innovation in Africa: Trends, challenges, and opportunities.

Journal of the National Medical Association
2025

Age Less Than 24 Months is Not an Independent Risk Factor for Serious Bacterial Illness in Febrile Children with Sickle Cell Disease.

The Journal of emergency medicine
2025

Salvage Structures, Known as Iron Chelating Agents, Acquired from the Nature and Matured in the Labs.

Current medicinal chemistry
2025

De novo rates of a Trypanosoma-resistant mutation in two human populations.

Proceedings of the National Academy of Sciences of the United States of America
2025

Septic Arthritis due to Salmonella Paratyphi A in a Splenectomized Thalassemia Patient.

The Journal of the Association of Physicians of India
2025

Gene therapy for HbSC disease and other compound heterozygous sickle hemoglobinopathies: a time for inclusion.

Blood
2025

Clinical Manifestations in the Maxillofacial Region of Acute Crisis of Sickle Cell Anemia: A Case Report.

Journal of clinical and experimental dentistry
2025

Early pregnancy maternal hemoglobin and the risk of neonatal congenital heart disease: insights from a case-control study, Guangdong, China.

Postgraduate medical journal
2025

Macular microvascular alterations in adults with sickle cell anemia detected by optical coherence tomography angiography.

Photodiagnosis and photodynamic therapy
2025

CB2 and TRPV1 receptors in inflammatory state of macrophages from sickle cell anemia pediatric/young adults.

Scientific reports
2025

A Case of Sickle Cell Beta Thalassemia and Recurrent Septicemia.

Cureus
2025

Acute soft head syndrome and orbital compression syndrome in a child with sickle cell disease: a case report.

Journal of medical case reports
2025

Hyperhemolysis in a sickle cell disease patient in pregnancy.

Annals of hematology
2025

Advances in Gene Therapy with Oncolytic Viruses and CAR-T Cells and Therapy-Related Groups.

Current issues in molecular biology
2025

Sickle Cell Diastolic Cardiomyopathy and Mortality Risk: A Novel Echocardiographic Framework for Prognostic Stratification.

American journal of hematology
2025

Polymorphic Distribution of Human Homeostatic Iron Regulator Gene H63D rs1799945 and Clinico-Hematological Parameters of Sickle Cell Anemia Patients: A Case-Control Study in Northern Ghana.

Health science reports
2025

Transiently acquired hemoglobin variants in patients with sickle cell disease: A case series and systematic review of the literature.

Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis
2025

Empowering Nurses to Enhance Disaster Preparedness for Individuals With Sickle Cell Disease: A Cross-Sectional Study.

International nursing review
2025

A Comprehensive Guide to Typhoidal Anemia.

Prague medical report
2025

Oral manifestations of sickle cell disease and its effects on dental and periodontal health: A systematic review.

Journal of advanced periodontology &amp; implant dentistry
2025

Reversal of Glomerular Hyperfiltration Following Hematopoietic Stem Cell Transplantation in Children With Sickle-Cell Anemia.

American journal of hematology
2025

Hemoglobin Sickle-Beta-Thalassemia With an Acute Crisis.

Cureus
2025

Prevalence, Etiological Patterns and Factors Associated with Bacteraemia Among Febrile Children with Sickle Cell Anaemia in Jinja Regional Referral Hospital, Uganda.

Infection and drug resistance
2025

The Association of Serum Level of TGF-β1 and Clinical Manifestations in Sickle Cell Anemia: A Case-Control Study.

Health science reports
2025

Through a Glass Darkly: Perceptions of Ethnoracial Identity in Artificial Intelligence Generated Medical Vignettes and Images.

Medical science educator
2025

Fox-Fordyce Disease in Women: A Case Report Highlighting Laser-Based Interventions.

Cureus
2025

Differences in oxygen-gradient ektacytometry parameters and blood viscosity between patients with sickle cell anemia and patients with sickle cell-hemoglobin C disorder.

Clinical hemorheology and microcirculation
2025

Association of sleep study outcomes and health care utilization in children with sickle cell disease: a multicenter study.

Blood advances
2026

Early detection and management of extracranial arteriopathy reduces the incidence of silent cerebral infarcts in sickle cell anemia: a long-term prospective cohort study.

Haematologica
2025

Red Blood Cells are Critical for Hemostasis and Thrombosis.

Seminars in thrombosis and hemostasis
2025

Identifying and addressing underuse in hematologic care through systems-based hematology.

Research and practice in thrombosis and haemostasis
2025

Impact of elevated red blood cell membrane cholesterol in sickle cell anemia patients: Effects of BRN-002, a 2-hydroxypropyl-β-cyclodextrin derivate, on red blood cell lipids, deformability, sickling and hemolysis.

Blood cells, molecules &amp; diseases
2025

Genome-Wide CRISPR Screen for Unveiling Radiosensitive and Radioresistant Genes.

Journal of visualized experiments : JoVE
2025

Plasma Zinc and Magnesium Levels in Sickle Cell Disease Patients in Latakia, Syria.

Cureus
2025

Assessing the safety of gene therapy vectors expressing an enhanced gamma-globin gene for the cure of sickle cell anemia.

Molecular therapy. Methods &amp; clinical development
2025

Clinical Implications of HbD-Punjab and HbS co-Inheritance - A Rare Case in South India.

Hemoglobin
2025

Primary Stroke Screening and Hydroxyurea Treatment for Sickle Cell Anemia in Pediatric Healthcare Settings in East and Central Africa: A Narrative Review of Capacity Gaps and Opportunities.

Public health reviews
2025

The Prevalence and Predictors of Sickle Cell Anemia in the Saudi Arabia General Population: Findings from a Cross-Sectional Study.

Healthcare (Basel, Switzerland)
2025

Emergency Presentations of Pediatric Sickle Cell Disease in French Guiana.

Diseases (Basel, Switzerland)
2025

Sequential gastric and ileal perforations, a rare presentation in a man with sickle cell anemia: A case report.

The Journal of international medical research
2025

Racial Inequities Influencing Admission, Disposition and Hospital Outcomes for Sickle Cell Anemia Patients: Insights from the National Inpatient Sample Database.

Hematology reports
2025

Altered Mental Status Due to Hyperammonemia Syndrome and PRES in a 31-Year-old Bone Marrow Transplant Recipient.

Journal of investigative medicine high impact case reports
2025

Selective removal of 7-ketocholesterol by a novel atherosclerosis therapeutic candidate reverts foam cells to a macrophage-like phenotype.

Atherosclerosis
2025

Comparing Absolute Neutrophil Counts of Children With Sickle Cell Disease With and Without the Duffy Null Phenotype.

Pediatric blood &amp; cancer
2025

Multicenter Experience of Catheter Ablation for Atrial Fibrillation in Sickle Cell Anemia.

Journal of cardiovascular electrophysiology
2025

Repair of type A aortic dissection in a patient with sickle cell disease.

Journal of surgical case reports
2025

Prevalence of Antiplatelet and Anticoagulation Therapy in Children with Sickle Cell Anemia and Stroke.

Pediatric stroke
2025

Impact of Switching From Race-Based to Race-Neutral Spirometry Reference Equations in Children With Sickle Cell Anemia.

American journal of hematology
2025

Health-Related Quality of Life in Children With Sickle Cell Anemia in Malaria-Endemic Regions: The Impact of Disease States and Malaria Prevention Strategies.

Value in health regional issues
2025

Noise Propagation and MP-PCA Image Denoising for High-Resolution Quantitative $R_2^{\rm{*}}$, $T_2^{\rm{*}}$, and Magnetic Susceptibility Mapping (QSM).

IEEE transactions on bio-medical engineering
2025

Caffeic Acid-Biogenic Amine Complexes Outperform Standard Drugs in Reducing Toxicity: Insights from In Vivo Iron Chelation Studies.

Molecular pharmaceutics
2025

Inflammation and Iron Profile in Children With Sickle Cell Disease in Cameroon: Frequency and Associated Factors, an Analytical Cross-Sectional Study.

Health science reports
Ver todos os 4.225 no EuropePMC

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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. Genetic and Functional Insights into F-Cell Distribution in Sickle Cell Anemia: A Genome-Wide Association Study Approach.
    Indian journal of hematology &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion· 2026· PMID 41728188mais citado
  2. 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· PMID 41728183mais citado
  3. 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· PMID 41728147mais citado
  4. Narratives unveil knowledge and awareness-related issue, reinforcing patients' self-identity in sickle cell disease.
    Orphanet journal of rare diseases· 2026· PMID 41715109mais citado
  5. Magnitude of Involvement of Peripheral Nervous System in Sickle Cell Anemia Patients in Vaso-Occlusive Crisis.
    Indian journal of hematology &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion· 2026· PMID 41522549mais citado
  6. Immune Imbalance in Sickle Cell Anemia: Flow Cytometric Insights Into Regulatory T Cells and Neutrophil Dynamics.
    J Clin Lab Anal· 2026· PMID 41980059recente
  7. Reliability of diffuse optical spectroscopies for evaluation of cerebral hemometabolic stress in children with sickle cell anemia.
    Biomed Opt Express· 2026· PMID 41970582recente
  8. Molecular mastery: Harnessing DNA technology for disease prevention.
    Genes Dis· 2026· PMID 41959736recente
  9. Growth and puberty in African children with sickle cell anemia treated with hydroxyurea.
    Blood Adv· 2026· PMID 41954645recente
  10. Systematic Review and Meta-analysis on the Prevalence of Common Hemoglobinopathies in India.
    Ann Afr Med· 2026· PMID 41943545recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:232(Orphanet)
  2. OMIM OMIM:603903(OMIM)
  3. MONDO:0011382(MONDO)
  4. GARD:8614(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Artigo Wikipedia(Wikipedia)

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 de células falciformes
Compêndio · Raras BR

Anemia de células falciformes

ORPHA:232 · MONDO:0011382
🇧🇷 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
Prevalência
1-5 / 10 000
Herança
Autosomal recessive
CID-10
D57.0 · Anemia falciforme com crise
CID-11
Ensaios
33 ativos
Medicamentos
11 registrados
Início
All ages
Prevalência
30.0 (United States)
MedGen
UMLS
C0002895
Repurposing
11 candidatos
azacitidineDNA methyltransferase inhibitor
cyanocobalaminmethylmalonyl CoA mutase stimulant|vitamin B
decitabineglucocorticoid receptor agonist
+8 outros
EuropePMC
Wikipedia
Papers 10a
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