Home 5 People 5 Celeste Bento

Celeste Bento

Orcid profile

Ciência Vitae profile

Research Interests
Congenital Red Blood Cell Diseases
Hemoglobinopathies
Erythrocytosis
Molecular Genetics

Clinical Laboratory Geneticist, certified by the European Board of Medical Genetics.

PhD in Biomedicine from ICBAS, University of Porto, with a thesis in advances in the Molecular Characterization of Congenital Erythrocytosis.

Coordinator of the Eryhtropatholoy and Iron Metabolism Laboratory at Hematology Department, University Hospital Coimbra, an EuroBloodNet european reference for the diagnosis of Congenital Red Blood Cell Diseases.

Principal researcher at the Research Centre for Anthropology and Health (CIAS), University of Coimbra.

Main scientific areas of research are Hemoglobinopathies, Congenital Hemolytic Anemias and Congenital Erythrocytosis. In addition to research activities, is involved in national and international scientific collaborations being member of the European network for Experts on the Molecular Diagnosis of Myeloproliferative Neoplasm and MPN-related congenital diseases (MPN&MPNr-Euronet), the EuroBloodNet, the Red Cell and Iron Disorders group of EHA and the Human Variome Project.

Member of the board of the Portuguese Hemoglobinopathies’ patients association (Associação Portuguesa de Pais e Doentes com Hemoglobinopatias – APPDH) and founding member of the Portuguese Society of Human Genetics.

Teaching

X Curso de Eritropatologia de la Societat Catalana D’Hematologia I Hemoterapia, Barcelona (2022). Tema: Congenital Erythrocytosis

Molecular Hematology, Hematology Department CHUC and Forum Hematologico (2022; 2023)

Curso teórico-prático em Citogenética e Genómica no diagnóstico e investigação, Fac Medicina UC (2020, 2021)– Tema: Nomemclatura em Biologia Molecular .

Curso de formação da Associação Europeia de Genética Humana (2019) – Sequenciação Sanger

Main Publications

Manco L, Bento C, Relvas L, Maia T, Ribeiro ML. Molecular Heterogeneity of Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency in the Portuguese Population. Acta Med Port. 2022 Sep 23. doi: 10.20344/amp.17584. Epub ahead of print. PMID: 36150187.

Kirschner M, Heinen IR, Koschmieder S, Manco L, Bento C, Eggermann T, Kurth I, Jost E, Brümmendorf TH, Fuchs R. Novel homozygous nonsense mutation in the P5’N-1 coding gene as an alternative cause for hereditary anemia with basophilic stippling. Clin Case Rep. 2022 Mar 4;10(3):e05501. doi: 10.1002/ccr3.5501. PMID: 35280089; PMCID: PMC8895901.

Rodrigues CD, Pombal R, Pereira J, Relvas L, Cunha E, Almeida JC, Maia T, Silva H, Bento C. Variants in the new E1′ cryptic exon of the VHL gene associated with congenital erythrocytosis-Description of three cases. EJHaem. 2022 Jul 1;3(3):989-991. doi: 10.1002/jha2.490. PMID: 36051068; PMCID: PMC9421959.

Kountouris P, Stephanou C, Lederer CW, Traeger-Synodinos J, Bento C, Harteveld CL, Fylaktou E, Koopmann TT, Halim-Fikri H, Michailidou K, Nfonsam LE, Waye JS, Zilfalil BA, Kleanthous M; ClinGen Hemoglobinopathy Variant Curation Expert Panel. Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel. Hum Mutat. 2022 Aug;43(8):1089-1096.

Daşdemir S, Kaya Z, Bento C. Peripheral Blood Smear Findings in 2 Patients With Coexisting Thalassemia and Hereditary Spherocytosis. J Pediatr Hematol Oncol. 2022 Sep 13. doi: 10.1097/MPH.0000000000002554. Epub ahead of print. PMID: 36161974.

Minaidou A, Tamana S, Stephanou C, Xenophontos M, Harteveld CL, Bento C, Kleanthous M, Kountouris P. A Novel Tool for the Analysis and Detection of Copy Number Variants Associated with Haemoglobinopathies. Int J Mol Sci. 2022 Dec 14;23(24):15920. doi: 10.3390/ijms232415920. PMID: 36555557; PMCID: PMC9782104.

Kountouris P, Stephanou C, Lederer CW, Traeger-Synodinos J, Bento C, Harteveld CL, Fylaktou E, Koopmann TT, Halim-Fikri H, Michailidou K, Nfonsam LE, Waye JS, Zilfalil BA, Kleanthous M; ClinGen Hemoglobinopathy Variant Curation Expert Panel. Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel. Hum Mutat. 2022 Aug;43(8):1089-1096. doi: 10.1002/humu.24280. Epub 2021 Sep 24. PMID: 34510646; PMCID: PMC9545675.

Tamana S, Xenophontos M, Minaidou A, Stephanou C, Harteveld CL, Bento C, Traeger-Synodinos J, Fylaktou I, Yasin NM, Abdul Hamid FS, Esa E, Halim-Fikri H, Zilfalil BA, Kakouri AC; ClinGen Hemoglobinopathy Variant Curation Expert Panel; Kleanthous M, Kountouris P. Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies. Elife. 2022 Dec 1;11:e79713. doi: 10.7554/eLife.79713. PMID: 36453528; PMCID: PMC9731569.

Manco L, Santos R, Rocha C, Relvas L, Bento C, Maia T, Gomes V, Amorim A, Prata MJ. Hb F Levels in β-Thalassemia Carriers and Normal Individuals: Known and Unknown Quantitative Trait Loci in the β-Globin Gene Cluster. Hemoglobin. 2022 May;46(3):168-175. doi: 10.1080/03630269.2022.2070498. Epub 2022 May 30. PMID: 35635444.

Research Projects

RADeep – Rare Anaemia Disorders European Epidemiological Platform

INHERENT – International Hemoglobinopathy Research Network

Screening of Hb S carriers in S Tomé e Principe

ITHANET: Information and database community portal for haemoglobinopathies

ClinGen Haemoglobinopathy Expert Panel

Creative Output

DrepaComunidade (https://www.drepacomunidade.pt/)

Portal for sharing information on Sickle Cell Disease, for the international Portuguese-speaking community, aimed at patients, caregivers, family members and health professionals

Web-based international database for Congenital Erythrocytosis

MPN&MPNr-Euronet