A5023767653- Hemoglobinopathies and Related Disorders
- Iron Metabolism and Disorders
- Blood groups and transfusion
- Acute Myeloid Leukemia Research
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Trace Elements in Health
- MicroRNA in disease regulation
- Erythrocyte Function and Pathophysiology
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Complement system in diseases
- Galectins and Cancer Biology
- Heme Oxygenase-1 and Carbon Monoxide
- Neonatal Health and Biochemistry
- Erythropoietin and Anemia Treatment
- Hematological disorders and diagnostics
- Pregnancy and preeclampsia studies
- RNA modifications and cancer
- Folate and B Vitamins Research
- Kruppel-like factors research
- Pharmacological Effects and Toxicity Studies
- Cannabis and Cannabinoid Research
- HIV Research and Treatment
- Bone and Joint Diseases
- Glutathione Transferases and Polymorphisms
- Amoebic Infections and Treatments
Fundação Hemopa
2016-2025
Universidade Federal de Pernambuco
2014
Hospital de Câncer de Pernambuco
2011
Approximately 3500 children with sickle cell disease (SCD) are born in Brazil each year, but the burden of SCD morbidity is not fully characterised. A large, multi-centre cohort was established to characterise clinical outcomes Brazilian population and create infrastructure perform genotype-phenotype association studies. Eligible patients were randomly selected from participating sites recruited at routine visits. biorepository blood samples created comprehensive demographic outcome data...
Sickle cell anemia (SCA) presents a complex interplay of factors, with the production high levels reactive oxygen species (ROS) and chronic inflammatory process leading to oxidative stress. In this context, efficient action antioxidant systems becomes crucial, particular emphasis on peroxiredoxins (PRDXs) due their abundance vital roles. Our primary objective was establish associations between gene protein expression PRDXs 1, 2, 6, as well reducers TRX1, TRXR1, SRX1, characteristic...
Paroxysmal nocturnal hemoglobinuria is a chronic, multi-systemic, progressive and life-threatening disease characterized by intravascular hemolysis, thrombotic events, serious infections bone marrow failure. results from the expansion of clone hematopoietic cells that due to an inactivating mutation X-linked gene PIG-A are deficient in glycosylphosphatidylinositol-linked proteins. Early diagnosis, using flow cytometry performed on peripheral blood, gold standard test confirm diagnosis...
Growth differentiation factor 15 (GDF-15) is a bone marrow-derived cytokine whose ability to suppress iron regulator hepcidin in vitro and increased concentrations found patients with ineffective erythropoiesis (IE)suggest that deficiency mediated by GDF-15 may be the pathophysiological explanation for nontransfusional overload. We aimed compare production anemic states different types of erythropoietic dysfunction. Complete blood counts, biochemical markers status, plasma hepcidin, GDF-15,...
Leg ulcers (LUs) represent one of the main causes morbidity in sickle cell anemia (SCA). This manifestation has been related to hemolysis, infections predisposition and inflammation that leads cytokines secretion. In this context, our study aimed evaluate Th17 (IL-6, IL-17A, IL-22 IL-23) serum peripheral mononuclear cells culture supernatants with without lymphoproliferative stimulation (anti-human CD3 anti-human CD28). The levels were also correlated clinical, hematological biochemical...
Free extracellular heme has been shown to activate several compartments of innate immunity, acting as a danger-associated molecular pattern (DAMP) in hemolytic diseases. Although localized endothelial barrier (EB) disruption is an important part inflammation that allows circulating leukocytes reach inflamed tissues, non-localized/deregulated the EB can lead widespread microvascular hyperpermeability and secondary tissue damage. In mouse models sickle cell disease (SCD), associated with...
Patients with sickle cell anemia (SCA) may present chronic hemolytic anemia, vaso-occlusion and respiratory tract infection (RTI) episodes. Galectin-3 (GAL-3) is a multifunctional protein involved in inflammation, apoptosis, adhesion resistance to reactive oxygen species. Studies point dual role for GAL-3 as both circulation damage-associated molecular pattern membrane associated recognition receptor.To investigate associations between the SNPs of gene (LGALS3) serum levels RTI...
We compared the frequencies of haptoglobin (Hp) genotypes 775 Brazilian patients with sickle-cell disease divided into following age groups: 3 months–5 years, 6–10 11–15 16–20 and over 20 years. The last group (>20 years) was also a healthy control further subgroups including only subjects aged 21–30 years (V.a Control.a) 30 (V.b Control.b). There no significant difference in Hp between different patient groups or controls. However, Hp2-2 genotype always less frequent than Hp1-1 groups,...
The JAK2 V617F mutation is associated with three myeloproliferative neoplasms (MPNs): polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). It generates an unregulated clonal hematopoietic progenitor leads to abnormal increased proliferation of one or more myeloid lineages. Subjects bearing this may present frequently complications such as thrombosis bleeding, no specific treatment has yet been developed for BCR-ABL-negative V617F-negative MPNs.To determine...
Although sickle cell anemia results from homozygosity for a single mutation at position 7 of the β-globin chain, clinical aspects this condition are very heterogeneous. Complications include leg ulcers, which have negative impact on patients’ quality life and related to severity disease. Nevertheless, complex pathogenesis complication has yet be elucidated. To identify novel genes associated with ulcers in anemia, we performed whole-exome sequencing extreme phenotypes sample Brazilian...
Mutations affecting genes involved in oxidative and signaling pathways may be associated with kidney disease sickle cell anemia. We determined the allele genotype frequencies of some polymorphisms promoter regions Heme Oxygenase-1 (HMOX1) [rs2071746 (A > T) (GT)n repeats, short (S) long (L) alleles] Bone Morphogenetic Protein Receptor type-1B (BMPR1B) [rs17022863 G), rs4331783 G) rs1470409 G)] 75 adult patients anemia 160 healthy controls investigated whether these influence estimated...
ABSTRACT Objectives: To evaluate the use of magnetic resonance imaging in patients with β-thalassemia and to compare T2* results serum ferritin levels redox active fraction labile plasma iron. Methods: We have retrospectively evaluated 115 chronically transfused (65 women). tested chemiluminescence, iron by cellular fluorescence used MRI assess content heart, liver, pancreas. Hepatic concentration was determined liver biopsies 11 were compared imaging. Results: The mean 2,676.5 +/- 2,051.7...
Summary Beta‐thalassaemia (BT) is classified according to blood transfusion requirement as minor (BTMi), intermedia (BTI) and major (BTM). BTM the most severe form, requiring regular transfusions while need only occasional in BTI. Differential gene expression between patients has not been assessed so far. Here, we evaluated global profiles during differentiation of human erythroid cells two carrying same mutation [ CD39 , (C → T)], though displaying different phenotypes (BTI BTM)....
Background . Previous studies on the role of inflammation in pathophysiology sickle cell disease (SCD) suggested that CCR5Δ32 allele, which is responsible for production truncated C-C chemokine receptor type 5 (CCR5), could confer a selective advantage patients with SCD because it leads to less efficient Th1 response. We determined frequency polymorphism 795 Afro-Brazilian followed up at Pernambuco Hematology and Hemotherapy Center, Northeastern Brazil, divided into pediatric group (3...
Despite advances in health care for sickle cell disease patients, as well the improvement reproductive issues mainly women with disease, pregnancy is still a challenge, both mother and child, high rates of maternal fetal morbidity mortality. Besides their chronic hemolytic status vaso-occlusive events that confer systemic complications, pregnant also have higher pain episodes, infections, abortion, intrauterine growth retardation, pre-term births, eclampsia, stillbirth hemolysis, elevated...
Abstract Background Sickle cell disease (SCD) is a multisystem disorder characterized by wide spectrum of clinical manifestations and severity. Studies investigating potential effects co-morbid human immunodeficiency virus (HIV) SCD have produced conflicting results, additional investigations are needed to elucidate whether the interaction between two states might impact both HIV outcomes. The association infection with laboratory characteristics patients was assessed. Methods This nested...
Magnetic resonance imaging (MRI) T2* technique is used to assess iron overload in the heart, liver and pancreas of thalassaemic patients. Optimal chelation expected tissue response rates remain under investigation. The objective this study was analyse serum ferritin concentration measured by MRI T2*/R2* during regular therapy a real-world cohort patients with thalassemia.We evaluated ≥ 7 years old undergoing chelation/transfusion assessed at baseline follow-up from 2004-2011.We 136 patients,...
Sickle cell anemia (SCA) presents heterogenous clinical manifestations that cannot be explained solely by alterations to hemoglobin (Hb); other components such as endothelial adhesion, thrombosis and inflammation may involved. The mannose-binding lectin (MBL) has an important role in innate immunity inflammatory diseases. In this report, we describe association between MBL2 polymorphism related low production of serum MBL the frequency vasoocclusive events (FVOE) children ≤ 5 years old with...