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Clinical, cellular and molecular alterations in hemoglobinopathies and other hereditary hemolytic anemias

Grant number:08/57441-0
Support Opportunities:Research Projects - Thematic Grants
Start date: June 01, 2009
End date: May 31, 2014
Field of knowledge:Health Sciences - Medicine - Medical Clinics
Principal Investigator:Fernando Ferreira Costa
Grantee:Fernando Ferreira Costa
Host Institution: Centro de Hematologia e Hemoterapia (HEMOCENTRO). Universidade Estadual de Campinas (UNICAMP). Campinas , SP, Brazil
City of the host institution:Campinas
Principal investigatorsCarla Fernanda Franco Penteado ; Maria de Fatima Sonati ; Mônica Barbosa de Melo ; Nicola Amanda Conran Zorzetto
Associated research grant(s):12/50582-3 - Scientific cooperation for the study of haemoglobinopathies: clinical, cellular and molecular alterations, AP.R
10/51459-5 - Scientific cooperation for the study of clinical, cellular and molecular alterations in the haemoglobinopathies and the understanding of the regulation of fetal haemoglobin, AP.R
Associated scholarship(s):12/07869-0 - Investigation of the role of YY1 and PAX1 transcription factors in the molecular mechanisms involved in the Brazilian type of hereditary persistence of fetal hemoglobin, BP.DR
12/06438-5 - HIGH-DENSITY MICROARRAY TECHNIQUE IN THE ASSESSMENT OF STROKE SUSCEPTIBILITY IN PATIENTS WITH SICKLE CELL ANEMIA, BP.DR
11/17553-7 - Expression of the inflammatory cytokine light in platelets of Sickle Cell disease patients: evaluation of activation of leukocytes and endothelial cells, BP.DD
+ associated scholarships 11/50959-7 - Standardization of transgenic sickle mice bone marrow transplantation, inflammatory induction and assessment of in vivo platelets role in vaso-occlusion, BP.PD
11/02380-0 - Evaluation of the effects of inhibition of the Rho/Rho-kinase in the eosinophils adhesion in patients with sickle cell anemia and in asthma experimental model in sickle mice, BP.DR
11/07681-8 - STANDARDIZATION OF AUTOMATIC METHOD FOR THE FUNCTIONAL STUDY OF HUMAN HEMOGLOBIN VARIANTS, BP.IC
09/15219-2 - BIOCHEMICAL AND GENETICAL ANALYSIS OF CELL ADHESION AND VASCULAR GROWTH PATHWAYS: ASSOCIATION WITH SICKLE CELL RETINOPATHY DEVELOPMENT, BP.MS
09/18248-3 - Correlation Between Function and Structure of Structural Variants of the Human Hemoglobin, BP.DR
09/54279-0 - Interactions between platelets from sickle cell anemia patients and human umbilical vein endothelial cells (HUVEC): in vitro evaluation of platelets adhesion and their effects on the endothelial activation, BP.DR
09/16334-0 - Aspects of angiogenesis in sickle cell anemia, BP.PD - associated scholarships

Abstract

Este projeto propõe estudo abrangente de características clínicas, genéticas, celulares e moleculares nas hemoglobinopatias e outras anemias hemolíticas por pesquisadores do Hemocentro da UNICAMP e colaboração com Hemocentro de Pernambuco, FioCruz da Bahia e do exterior. Serão conduzidos os seguintes projetos: Estudo de novas alternativas terapêuticas para o tratamento da anemia falciforme (AF) in vitro e em modelo animal e pacientes. Estudo dos mecanismos moleculares relacionados à expressão gênica diferencial em portadores de PHHF não delecional tipo brasileira; ações da proteína GATA1s na diferenciação de células da linhagem hematopoética; características de expressão gênica e proteica das moléculas de adesão nos glóbulos vermelhos e neutrófilos de pacientes com hemoglobinopatia SC e S/B talassemia; análise do perfil de fatores de transcrição e miRNAs envolvidos na eritropoese in vitro de pacientes com talassemia B intermediária e AF; identificação de polimorfismos em pacientes com AF e B-talassemia homozigota e silenciamento e superexpressão em cultura de células eritróides do gene SARA2; caracterização da relação estrutura-função de variantes novas da hemoglobina; silenciamento do gene da globina B em culturas de células eritróides de paciente com doença da HbH; silenciamento do gene da enzima PIP5KIIA em células eritróides humanas normais e de paciente com doença da HbH; caracterização do efeito da inibição da PDE9A nas células hematopoéticas de pacientes e nos camundongos falciformes; caracterização dos mecanismos de inibição da apoptose de neutrófilos de pacientes com AF e seu papel na fisiopatologia da doença; comparação da biodisponibilidade do NO, de marcadores de inflamação e as propriedades adesivas das células sanguíneas de indivíduos com esferocitose hereditária, hemoglobinúria paroxística noturna e AF; Avaliação das variações no número de cópias na suscetibilidade ao AVC em pacientes com AF; determinação dos níveis plasmáticos de moléculas de adesão, fatores angiogênicos e anti-angiogênicos e citocinas inflamatórias: associação com o desenvolvimento de retinopatia falciforme; investigação dos mecanismos envolvidos no priapismo e na reatividade da bexiga em camundongos transgênicos. (AU)

Articles published in Agência FAPESP Newsletter about the research grant:
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Scientific publications (27)
(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)
DE MEDEIROS ALCOFORADO, GUSTAVO HENRIQUE; BEZERRA, CHRISTIANE MEDEIROS; ARAUJO MOURA LEMOS, TELMA MARIA; DE OLIVEIRA, DENISE MADUREIRA; KIMURA, ELZA MIYUKI; COSTA, FERNANDO FERREIRA; SONATI, MARIA DE FATIMA; DANTAS DE MEDEIROS, TEREZA MARIA. Prevalence of alpha-thalassemia 3.7 kb deletion in the adult population of Rio Grande do Norte, Brazil. GENETICS AND MOLECULAR BIOLOGY, v. 35, n. 3, p. 594-598, . (08/57441-0)
LUNA DA SILVEIRA, ZAMA MESSALA; BARBOSA, MARIA DAS VITORIAS; ARAUJO DE MEDEIROS FERNANDES, THALES ALLYRIO; KIMURA, ELZA MIYUKI; COSTA, FERNANDO FERREIRA; SONATI, MARIA DE FATIMA; MORETTI REBECCHI, IVANISE MARINA; DANTAS DE MEDEIROS, TEREZA MARIA. Characterization of beta-thalassemia mutations in patients from the state of Rio Grande do Norte, Brazil. GENETICS AND MOLECULAR BIOLOGY, v. 34, n. 3, p. 425-428, . (08/57441-0)
NUNES SANTOS, MAGNUN NUELDO; CAVALCANTI BEZERRA, MARCOS ANDRE; TAVARES BORGES DOMINGUES, BETANIA LUCENA; ZACCARIOTTO, TANIA REGINA; OLIVEIRA, DENISE MADUREIRA; COSTA, FERNANDO FERREIRA; ARAUJO, ADERSON DA SILVA; SONATI, MARIA DE FATIMA. Haptoglobin Genotypes in Sickle-Cell Disease. GENETIC TESTING AND MOLECULAR BIOMARKERS, v. 15, n. 10, p. 709-713, . (08/01690-2, 08/57441-0)
FERTRIN, KLEBER YOTSUMOTO; LANARO, CAROLINA; FRANCO-PENTEADO, CARLA FERNANDA; DE ALBUQUERQUE, DULCINEIA MARTINS; BANDEIRA DE MELLO, MARIANA REZENDE; PALLIS, FLAVIA RUBIA; CAVALCANTI BEZERRA, MARCOS ANDRE; DOMINGUES HATZLHOFER, BETANIA LUCENA; OLBINA, GORDANA; OLALLA SAAD, SARA TEREZINHA; et al. Erythropoiesis-driven regulation of hepcidin in human red cell disorders is better reflected through concentrations of soluble transferrin receptor rather than growth differentiation factor 15. American Journal of Hematology, v. 89, n. 4, p. 385-390, . (08/57441-0)
THALES ALLYRIO ARAÚJO DE MEDEIROS FERNANDES; TEREZA MARIA DANTAS DE MEDEIROS; JAYRA JULIANA PAIVA ALVES; CHRISTIANE MEDEIROS BEZERRA; JOSÉ VERÍSSIMO FERNANDES; ÉDVIS SANTOS SOARES SERAM; MARIA ZÉLIA FERNANDES; MARIA DE FATIMA SONATI. Socioeconomic and demographic characteristics of sickle cell disease patients from a low-income region of northeastern Brazil. Revista Brasileira de Hematologia e Hemoterapia, v. 37, n. 3, p. 172-177, . (08/57441-0)
LOPES, MARIANA PEZZUTE; NUNES SANTOS, MAGNUN NUELDO; FABER, ELIEL WAGNER; CAVALCANTI BEZERRA, MARCOS ANDRE; DOMINGUES HATZLHOFER, BETANIA LUCENA; ALBUQUERQUE, DULCINEIA MARTINS; ZACCARIOTTO, TANIA REGINA; RIBEIRO, DANIELA MARIA; ARAUJO, ADERSON DA SILVA; COSTA, FERNANDO FERREIRA; et al. The CCR5 Delta 32 Polymorphism in Brazilian Patients with Sickle Cell Disease. DISEASE MARKERS, v. 2014, p. 4-pg., . (08/57441-0, 11/02622-3)
GARRIDO, VANESSA TONIN; SONZOGNI, LAURA; MTATIRO, SIANA NKYA; COSTA, FERNANDO F.; CONRAN, NICOLA; THEIN, SWEE LAY. Association of plasma CD4OL with acute chest syndrome in sickle cell anemia. CYTOKINE, v. 97, p. 104-107, . (08/57441-0, 12/50582-3, 12/22043-0, 11/17553-7)
LANARO, CAROLINA; FRANCO-PENTEADO, CARLA F.; SILVA, FABIO H.; FERTRIN, KLEBER Y.; DOS SANTOS, JEAN LEANDRO; WADE, MARLENE; YERIGENAHALLY, SHOBHA; DE MELO, THAIS R.; CHIN, CHUNG MAN; KUTLAR, ABDULLAH; et al. A thalidomide-hydroxyurea hybrid increases HbF production in sickle cell mice and reduces the release of proinflammatory cytokines in cultured monocytes. Experimental Hematology, v. 58, p. 35-38, . (08/57441-0)
LOPES, FLAVIA C. M.; TRAINA, FABIOLA; ALMEIDA, CAMILA B.; LEONARDO, FLAVIA C.; FRANCO-PENTEADO, CARLA F.; GARRIDO, VANESSA T.; COLELLA, MARINA P.; SOARES, RAQUEL; OLALLA-SAAD, SARA T.; COSTA, FERNANDO F.; et al. Key endothelial cell angiogenic mechanisms are stimulated by the circulating milieu in sickle cell disease and attenuated by hydroxyurea. Haematologica, v. 100, n. 6, p. 730-739, . (09/16334-0, 08/57441-0)
MASCIA LOPES, FLAVIA CRISTINE; FERREIRA, REGIANE; ALBUQUERQUE, DULCINEIA MARTINS; ANTONIELLIS SILVEIRA, ANGELICA A.; COSTA, RAQUEL; SOARES, RAQUEL; COSTA, FERNANDO FERREIRA; CONRAN, NICOLA. In vitro and in vivo anti-angiogenic effects of hydroxyurea. MICROVASCULAR RESEARCH, v. 94, p. 106-113, . (09/16334-0, 08/57441-0)
DOS SANTOS, ALISSON F.; ALMEIDA, CAMILA B.; BRUGNEROTTO, ANA F.; ROVERSI, FERNANDA M.; PALLIS, FLAVIA R.; FRANCO-PENTEADO, CARLA F.; LANARO, CAROLINA; ALBUQUERQUE, DULCINEIA M.; LEONARDO, FLAVIA C.; COSTA, FERNANDO F.; et al. Reduced plasma angiotensin II levels are reversed by hydroxyurea treatment in mice with sickle cell disease. Life Sciences, v. 117, n. 1, p. 7-12, . (08/57441-0)
CRUZ, P. R. S.; LIRA, R. P. C.; PEREIRA FILHO, S. A. C.; SOUZA, B. B.; MITSUUSHI, F. N.; MENAA, F.; FERTRIN, K. Y.; VASCONCELLOS, J. P. C.; CONRAN, N.; COSTA, F. F.; et al. Increased circulating PEDF and low sICAM-1 are associated with sickle cell retinopathy. BLOOD CELLS MOLECULES AND DISEASES, v. 54, n. 1, p. 33-37, . (09/15219-2, 08/57441-0)
DA LUZ, JULIO; AVILA, AMALIA; ICASURIAGA, SANDRA; GONGORA, MARIA; CASTILLO, LUIS; SERRON, ALEJANDRA; KIMURA, ELZA MIYUKI; COSTA, FERNANDO FERREIRA; SANS, MONICA; SONATI, MARIA DE FATIMA. Frequency and spectrum of hemoglobinopathy mutations in a Uruguayan pediatric population. GENETICS AND MOLECULAR BIOLOGY, v. 36, n. 3, p. 316-322, . (08/57441-0)
GIL, GISLENE P.; ANANINA, GALINA; OLIVEIRA, MARIANA B.; COSTA, FERNANDO F.; SILVA, MARCIO J.; SANTOS, MAGNUN N. N.; BEZERRA, MARCOS A. C.; HATZLHOFER, BETANIA L. D.; ARAUJO, ADERSON S.; MELO, MONICA B.. POLYMORPHISM IN THE HMOX1 GENE IS ASSOCIATED WITH HIGH LEVELS OF FETAL HEMOGLOBIN IN BRAZILIAN PATIENTS WITH SICKLE CELL ANEMIA. HEMOGLOBIN, v. 37, n. 4, p. 315-324, . (08/57441-0)
SUEMASU, C. N.; KIMURA, E. M.; OLIVEIRA, D. M.; BEZERRA, M. A. C.; ARAUJO, A. S.; COSTA, F. F.; SONATI, M. F.. Characterization of alpha thalassemic genotypes by multiplex ligation-dependent probe amplification in the Brazilian population. Brazilian Journal of Medical and Biological Research, v. 44, n. 1, p. 16-22, . (10/00560-8, 08/57441-0)
LOPES, MARIANA PEZZUTE; NUNES SANTOS, MAGNUN NUELDO; FABER, ELIEL WAGNER; CAVALCANTI BEZERRA, MARCOS ANDRE; DOMINGUES HATZLHOFER, BETANIA LUCENA; ALBUQUERQUE, DULCINEIA MARTINS; ZACCARIOTTO, TANIA REGINA; RIBEIRO, DANIELA MARIA; ARAUJO, ADERSON DA SILVA; COSTA, FERNANDO FERREIRA; et al. The CCR5 Delta 32 Polymorphism in Brazilian Patients with Sickle Cell Disease. DISEASE MARKERS, . (08/57441-0, 11/02622-3)
DA LUZ, J.; LOPEZ, P.; KIMURA, E. M.; ALBUQUERQUE, D. M.; COSTA, F. F.; SANS, M.; SONATI, M. F.. A new beta(0)-thalassemia frameshift mutation [beta 48 (-T)] in a Uruguayan family. INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, v. 35, n. 1, p. 111-114, . (08/57441-0)
KITAYAMA CABRAL, CYNTHIA HATSUE; SOARES SERAFIM, EDVIS SANTOS; DANTAS BEZERRA DE MEDEIROS, WALESKA RAYANE; ARAUJO DE MEDEIROS FERNANDES, THALES ALLYRIO; KIMURA, ELZA MIYUKI; COSTA, FERNANDO FERREIRA; SONATI, MARIA DE FATIMA; MORETTI REBECCHI, IVANISE MARINA; DANTAS DE MEDEIROS, TEREZA MARIA. Determination of beta(S) haplotypes in patients with sickle-cell anemia in the state of Rio Grande do Norte, Brazil. GENETICS AND MOLECULAR BIOLOGY, v. 34, n. 3, p. 421-424, . (08/57441-0)
CLAUDINO, MARIO ANGELO; SILVEIRA LEIRIA, LUIZ OSORIO; DA SILVA, FABIO HENRIQUE; ALEXANDRE, EDUARDO COSTA; RENNO, ANDRE; MONICA, FABIOLA ZAKIA; DE NUCCI, GILBERTO; FERTRIN, KLEBER YOTSUMOTO; ANTUNES, EDSON; COSTA, FERNANDO FERREIRA; et al. Urinary Bladder Dysfunction in Transgenic Sickle Cell Disease Mice. PLoS One, v. 10, n. 8, . (08/57441-0)
LEONARDO, DANIELA P.; ALBUQUERQUE, DULCINELA M.; LANARO, CAROLINA; BAPTISTA, LETICIA C.; CECATTI, JOSE G.; SURITA, FERNANDA G.; PARPINELLI, MARY A.; COSTA, FERNANDO F.; FRANCO-PENTEADO, CARLA F.; FERTRIN, KLEBER Y.; et al. Association of Nitric Oxide Synthase and Matrix Metalloprotease Single Nucleotide Polymorphisms with Preeclampsia and Its Complications. PLoS One, v. 10, n. 8, . (14/00984-3, 08/57441-0)
PROENCA-FERREIRA, RENATA; BRUGNEROTTO, ANA FLAVIA; GARRIDO, VANESSA TONIN; DOMINICAL, VENINA MARCELA; VITAL, DAIANA MORELLI; REIS RIBEIRO, MARILENE DE FATIMA; DOS SANTOS, MELISSA ERCOLIN; TRAINA, FABIOLA; OLALLA-SAAD, SARA T.; COSTA, FERNANDO FERREIRA; et al. Endothelial Activation by Platelets from Sickle Cell Anemia Patients. PLoS One, v. 9, n. 2, . (09/54279-0, 08/57441-0)
JORGE, SUSAN E. D. C.; PETRUK, ARIEL A.; KIMURA, ELZA M.; OLIVEIRA, DENISE M.; CAIRE, LUCAS; SUEMASU, CINTIA N.; SILVEIRA, PAULO A. A.; ALBUQUERQUE, DULCINEIA M.; COSTA, FERNANDO F.; SKAF, MUNIR S.; et al. Hb S-Sao Paulo: A new sickling hemoglobin with stable polymers and decreased oxygen affinity. Archives of Biochemistry and Biophysics, v. 519, n. 1, p. 23-31, . (09/18248-3, 08/57441-0)
ZACCARIOTTO, T. R.; LANARO, C.; ALBUQUERQUE, D. M.; SANTOS, M. N. N.; BEZERRA, M. A. C.; CUNHA, F. G. P.; LORAND-METZE, I.; ARAUJO, A. S.; COSTA, F. F.; SONATI, M. F.. Expression profiles of phosphatidylinositol phosphate kinase genes during normal human in vitro erythropoiesis. Genetics and Molecular Research, v. 11, n. 4, p. 3861-3868, . (08/57441-0)
BAPTISTA, LETICIA C.; COSTA, MARIA LAURA; FERREIRA, REGIANE; ALBUQUERQUE, DULCINEIA M.; LANARO, CAROLINA; FERTRIN, KLEBER Y.; SURITA, FERNANDA G.; PARPINELLI, MARY A.; COSTA, FERNANDO F.; DE MELO, MONICA BARBOSA. Abnormal expression of inflammatory genes in placentas of women with sickle cell anemia and sickle hemoglobin C disease. ANNALS OF HEMATOLOGY, v. 95, n. 11, p. 1859-1867, . (14/00984-3, 08/57441-0)
ELZA MIYUKI KIMURA; DENISE MADUREIRA OLIVEIRA; SUSAN ELISABETH JORGE; DANIELA MARIA RIBEIRO; TÂNIA REGINA ZACCARIOTTO; MAGNUN NUELDO NUNES SANTOS; VANESSA ALMEIDA; DULCINÉIA MARTINS ALBUQUERQUE; FERNANDO FERREIRA COSTA; MARIA DE FÁTIMA SONATI. Investigating alpha-globin structural variants: a retrospective review of 135,000 Brazilian individuals. Revista Brasileira de Hematologia e Hemoterapia, v. 37, n. 2, p. 103-108, . (08/57441-0, 10/00560-8)
SOUSA DA CRUZ, PEDRO RODRIGUES; ANANINA, GALINA; SECOLIN, RODRIGO; GIL-DA-SILVA-LOPES, VERA LUCIA; PASSOS LIMA, CARMEN SILVIA; CONDEIXA DE FRANCA, PAULO HENRIQUE; DONATTI, AMANDA; LOURENCO, GUSTAVO JACOB; DE ARAUJO, TANIA KAWASAKI; SIMIONI, MILENA; et al. Demographic history differences between Hispanics and Brazilians imprint haplotype features. G3-GENES, GENOMES, GENETICS, v. N/A, p. 13-pg., . (08/57441-0, 13/07559-3, 14/00984-3, 15/13152-9, 19/18886-1, 08/10596-0, 12/06438-5)
CRUZ, PEDRO R. S.; ANANINA, GALINA; GIL-DA-SILVA-LOPES, VERA LUCIA; SIMIONI, MILENA; MENAA, FARID; BEZERRA, MARCOS A. C.; DOMINGOS, IGOR F.; ARAUJO, ADERSON S.; PELLEGRINO, RENATA; HAKONARSON, HAKON; et al. Genetic comparison of sickle cell anaemia cohorts from Brazil and the United States reveals high levels of divergence. SCIENTIFIC REPORTS, v. 9, . (08/10596-0, 08/57441-0, 14/00984-3, 12/06438-5, 15/13152-9)