A5067713063- Hemoglobinopathies and Related Disorders
- Iron Metabolism and Disorders
- Erythrocyte Function and Pathophysiology
- Blood groups and transfusion
- Acute Myeloid Leukemia Research
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Neonatal Health and Biochemistry
- Chronic Myeloid Leukemia Treatments
- Folate and B Vitamins Research
- Blood properties and coagulation
- Hemoglobin structure and function
- Prenatal Screening and Diagnostics
- Epigenetics and DNA Methylation
- Kruppel-like factors research
- Heme Oxygenase-1 and Carbon Monoxide
- Bone and Joint Diseases
- RNA modifications and cancer
- Blood disorders and treatments
- Chronic Lymphocytic Leukemia Research
- Glutathione Transferases and Polymorphisms
- Pregnancy and preeclampsia studies
- Eosinophilic Disorders and Syndromes
- Sexual function and dysfunction studies
- Platelet Disorders and Treatments
- Hematological disorders and diagnostics
Universidade Estadual de Campinas (UNICAMP)
2016-2025
Fundação Centro de Hematologia e Hemoterapia de Minas Gerais
2024
Instituto Federal do Piauí
2024
Hospital for Special Surgery
2022
Instituto Nacional de Ciência e Tecnologia de Doenças Tropicais
2020
Hospital de Clínicas da Unicamp
1991-2019
University of Washington
2018
Centro Universitário da Cidade
2018
Johns Hopkins University
2016
Saveh University of Medical Sciences
2016
Sickle cell disease (SCD) is a debilitating monogenic blood disorder with highly variable phenotype characterized by severe pain crises, acute clinical events, and early mortality. Interindividual variation in fetal hemoglobin (HbF) expression known potentially heritable modifier of SCD severity. High HbF levels are correlated reduced morbidity Common single nucleotide polymorphisms (SNPs) at the BCL11A HBS1L-MYB loci have been implicated previously level nonanemic European populations. We...
Summary Mild hyperhomocysteinemia has been identified as a risk factor for arterial disease and venous thrombosis. Individuals homozygous the thermolabile variant of methylene tetrahydrofolate reductase gene (MTHFR) which results from common mutation Ala677→Val is found in 5-15% general population, have significantly elevated plasma homocysteine levels may account one genetic factors vascular disease. We analyzed prevalence MTHFR-T homozygotes patients with or studied 191 127 individuals...
Abstract: The deformability of erythrocytes is a critical determinant blood flow in microcirculation. By capturing red cells (RBC) with optical tweezers and dragging them through viscous fluid we were able to measure their overall elasticity. We measured, compared, the RBC 15 homozygous patients (HbSS) including five taking hydroxyurea (HU) for at least 6 months (HbSS/HU), 10 subjects sickle cell trait (HbAS) 35 normal controls. Our results showed that was significantly lower haemoglobin S...
Theoretical considerations predict that amplification of expressed gene transcripts by reverse transcription–PCR using arbitrarily chosen primers will result in the preferential central portion transcript. Systematic, high-throughput sequencing such products would an sequence tag (EST) database consisting central, generally coding regions genes. Such a add significant value to existing public EST databases, which consist mostly sequences derived from extremities cDNAs, and facilitate...
Abstract Inflammation, cell adhesion to vascular endothelium, and endothelial injury contribute sickle anemia (SCA) vaso-occlusion. Although alterations in inflammatory cytokines biomarkers have been related, reports conflicting, a conclusive role for these molecules the disease remains be established. Furthermore, effect of hydroxyurea therapy (HU) on release mediators is not understood. This study aimed determine plasma levels leukocyte gene expressions healthy controls, steady-state SCA...
The prothrombin gene variant resulting form a G-->A transition at position 20210 has been described as common genetic risk factor for venous thrombosis. However, the developing arterial disease is unknown. In this investigation, we studied 116 patients with thrombosis and 71 disease, all of whom were compared 295 controls. Additionally, also investigated distribution alleles among African descendents Amazonian Indians from Brazil. prevalence 0.7% 20210A allele in control group increased to...
Open reading frame expressed sequences tags (ORESTES) differ from conventional ESTs by providing sequence data the central protein coding portion of transcripts. We generated a total 696,745 ORESTES 24 human tissues and used subset that correspond to set 15,095 full-length mRNAs as means assessing efficiency strategy its potential contribution definition transcriptome. estimate sampled over 80% all highly moderately expressed, between 40% 50% rarely genes. In our most thoroughly sequenced...
Germline GATA1 mutations that result in the production of an amino-truncated protein termed GATA1s (where s indicates short) cause congenital hypoplastic anemia. In patients with trisomy 21, similar somatic GATA1s-producing promote transient myeloproliferative disease and acute megakaryoblastic leukemia. Here, we demonstrate induced pluripotent stem cells (iPSCs) from GATA1-truncating exhibit impaired erythroid potential, but enhanced megakaryopoiesis myelopoiesis, recapitulating major...
Summary Haemoglobin S polymerization in the red blood cells (RBCs) of individuals with sickle cell anaemia (SCA) can cause RBC sickling and cellular alterations. Piezo1 is a mechanosensitive protein that modulates intracellular calcium (Ca 2+ ) influx, its activation has been associated increased surface membrane phosphatidylserine (PS) exposure. Hypothesizing activation, ensuing Gárdos channel activity, alter properties, RBCs from patients SCA were incubated agonist, Yoda1 (0.1–10 μM)....
alpha I/74 hereditary elliptocytosis (HE) is a subgroup of HE in which patients exhibit an impaired self-association spectrin dimers and abnormal proteolytic cleavage the I domain spectrin. We studied family proband presented with severe neonatal hemolytic anemia poikilocytosis. Biochemical analysis erythrocytes from his members allowed us to ascertain diagnosis homozygosity for heterozygosity parents several their offspring. Results polymorphism linkage suggested that defect this was...
Vascular disease is a serious public health problem in the industrialized world, and frequent cause of death among adult population Brazil. Mild hyperhomocysteinemia has been identified as risk factor for arterial disease, venous thrombosis, neural tube defects. Individuals homozygous thermolabile variant methylenetetrahydrofolate reductase (MTHFR-T) are found 5–15% general have significantly elevated plasma homocysteine levels which represent one genetic factors vascular diseases. We...
Background Blood samples from patients with sickle cell disease (SCD) present to transfusion service numerous antibodies, making the searching for compatible red blood cells (RBC) a challenge. To overcome this problem we developed an effective strategy meet needs of supplying RBC‐compatible units SCD using DNA arrays. Methods We selected 144 multiple (receiving > 5 units) transfusions previously phenotyped ABO, Rh(D, C, c, E, e), K1, Fy and Jk . also 948 Brazilian donors whose ABO/RhD...
BACKGROUND The reason for the difference in susceptibility to red blood cell (RBC) alloimmunization among patients with sickle disease (SCD) is not clearly understood and probably result of multiple factors. Our hypothesis that genetic polymorphisms are associated RBC alloimmunization. STUDY DESIGN AND METHODS We investigated possible association HLA cytokines genes 161 SCD prior exposed transfusion. Cytokine gene were analyzed by polymerase chain reaction (PCR) TaqMan assays. Class I...
Intravascular hemolysis (IVH), a pathological process associated with various conditions, triggers vascular responses; however, the molecular and cellular mechanisms driving this remain unclear. To explore role of NLRP3 inflammasome- caspase-dependent pathways in IVH-induced inflammation, we used vivo models acute chronic IVH, alongside heme-stimulation endothelial cells, thereby isolating disease mechanism from its etiological causes. Acute IVH induced immediate inflammatory responses...