66th ASH Annual Meeting: 101. Red Cells and Erythropoiesis, Excluding Iron: Poster I

Symposia: Red Cells and Erythropoiesis, Excluding Iron Oral and Poster Abstracts
Poster

Research, Acquired Marrow Failure Syndromes, Acute Myeloid Malignancies, AML, Fundamental Science, Adult, Bone Marrow Failure Syndromes, Inherited Marrow Failure Syndromes, Translational Research, Assays, Genetic Disorders, Genomics, Bioinformatics, Clinical Research, Hemoglobinopathies, Hematopoiesis, Blood banking, Diseases, Cell expansion, Metabolism, Biological Processes, Technology and Procedures, Molecular biology, Study Population, Profiling, Human, Pathogenesis, Animal model, Omics technologies, Pathology

Halls G-H (San Diego Convention Center)

1069

Evaluating the Clinical Impact of Hemoglobinopathy and Hereditary Red Blood Cell Disorder Co-Inheritance in a Cohort of 315 Patients

Filippo Russo^1,2^*, Anthony Iscaro^2,3^*, Roberta Marra, PhD^2,4^*, Antonella Nostroso^2,3^*, Barbara Eleni Rosato, PhD^2,3^*, Manuela Dionisi²^*, Federica Maria Esposito^2,3^*, Vanessa D’Onofrio^2,3^*, Mariangela Manno^2,3^*, Valentina Brancaleoni, PhD⁵^*, Simona Leoni⁵^*, Achille Iolascon, MD, PhD^2,3^*, Irene Motta, MD^5,6, Immacolata Andolfo, PhD^2,3^* and Roberta Russo^2,7^*

¹Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Roma, Italy
²CEINGE - Advanced Biotechnology - Franco Salvatore, Naples, Italy
³Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy
⁴University of Naples Federico II, CEINGE Biotecnologie Avanzate, Naples, Italy, Naples, Italy
⁵SC Medicina Indirizzo Metabolico, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy
⁶Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy
⁷CEINGE - Biotecnologie Avanzate Franco Salvatore, CEINGE - Biotecnologie Avanzate, Napoli, NA, Italy

1070

Erythroid Dysplasia in Stag2 Deficient Murine Models Reveals Novel Erythropoietic Function for Stag2 Cohesin

Varun S. Sudunagunta, BA^1,2,3, Yi Chen, MD, PhD^1,3^*, Russell Kunes, PhD⁴^*, Edna M. Stewart, BS^3,5^*, Viviana Scoca, PhD^1,3^*, John Pantazi, BA³^*, Hongxia Yan, PhD⁶, Jane J. Xu, PhD^1,3, Mohandas Narla, DSc⁶ and Aaron D. Viny, MD, MS^1,3

¹Department of Medicine, Division of Hematology-Oncology, Columbia University Irving Medical Center, New York, NY
²Columbia University Vagelos College of Physicians and Surgeons, New York, NY
³Columbia Stem Cell Initiative, New York, NY
⁴Department of Statistics, Columbia University, New York, NY
⁵Department of Bioengineering, Columbia University, New York, NY
⁶Lindsley F. Kimball Research Institute, New York Blood Center, New York, NY

1071

Inducible, Erythroid-Specific Knockout of Codanin-1 in Adult Mice Replicates Congenital Dyserythropoietic Anemia Type-Ia

Corbin R Azucenas, BS^1,2, Aikaterini Voulgaridou, MD³, Maria Stewart⁴^*, Athina Ntoumaziou, MD⁴^*, Yasmin Elgammal, MD, MSc⁴^*, Katie Seu, PhD⁵ and Theodosia A. Kalfa, MD, PhD⁴

¹University of Cincinnati, Cincinnati, OH
²Cincinnati Children's Hospital Medical Center, Cincinnati, OH
³Indiana University School of Medicine, Indianapolis, IN
⁴Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH
⁵Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH

1072

Mechanics of Spectrin As a Stiff Polymer

Zhangli Peng, PhD¹, Timothy Leong¹^*, Nima Mostafazadeh¹^* and Qiang Zhu, PhD²^*

¹Department of Biomedical Engineering, University of Illinois Chicago, Chicago, IL
²University of California San Diego, La Jolla, CA

1073

Establishing a Patient-Derived Immortalized Erythroid Progenitor Cell Model to Investigate Disease Mechanisms and Lentiviral Gene Therapy Vector in Congenital Dyserythropoietic Anemia Type II

Ravina Taak, PhD¹^*, Dinesh Babu²^*, Manu Jamwal, PhD³^*, Dhavapriya Palani⁴^*, Prashant Sharma, MBBS, MD⁵^*, Prateek Bhatia, MD⁶^*, Deepak Bansal⁶^*, Shaji R Velayudhan, PhD⁷^* and Reena Das, MD⁸

¹Hematology, Postgraduate Institute of Medical Education and Research Chandigarh, Chandiagrh, AL, India
²Center for Stem Cell Research, Christian Medical College, Vellore, India, Vellore, India
³Hematology, Postgraduate Institute of Medical Education and Research Chandigarh, Chandigarh, IND
⁴Centre for Stem Cell Research,Christian Medical College, Vellore, Vellore, India
⁵Postgraduate Institute of Medical Education and Research Chandigarh, New Delhi, IND
⁶Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, IND
⁷Hematology, Christian Medical College, Vellore, Vellore, India
⁸Postgraduate Institute of Medical Education & Research, Chandigarh, IND

1074

RBC eNOS Regulates O₂ Delivery Phenotype during Circulatory Transit Via Control of Intracellular pH

Stephen C Rogers, PhD¹^*, Zohreh Safari, PhD²^*, Mary E Brummet²^*, Daniel Bennett³^*, Emioluwa Odunaiya³^*, Adaora Eziemefe³^*, Jacqueline Nguyen³^*, Sarah Enjati²^*, Olivia Conelius⁴^*, Aaron Issaian⁵^*, Monika monikA.dzieciatkow⁶^*, Fabia Gamboni⁷^*, Jason Held, PhD⁸^*, Angelo D'Alessandro, PhD⁹, Luke S Dunaway, PhD¹⁰^*, Isakson Brant¹¹^*, Miriam Cortese Krott, PhD¹²^* and Allan Doctor, MD¹³

¹University of Maryland School of Medicine, Baltimore, MD
²University of Maryland school of Medicine, Baltimore, MD
³university of MARYLAND, BALTIMORE, BALTIMORE, MD
⁴university of MARYLAND School of medicine, BALTIMORE, BALTIMORE, MD
⁵University of Colorado Anschutz Medical Campus, Aurora, CO
⁶Department of Biochemistry and Molecular Genetics, University of Colorado Denver, Aurora, CO
⁷University of Colorado, Aurora, CO
⁸Washington University in St. Louis, St. Louis, MO
⁹Department of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical Campus, Aurora, CO
¹⁰Cardiovascular Research Center, University of Virginia, Charlottesville, VA
¹¹University of Virginia School of Medicine, Charlottesville, VA
¹²Heinrich-Heine-Universität Düsseldorf, Düsseldorf, Germany
¹³University of Maryland, Baltimore, MD

1075

Cytoplasmic Intron Retention As a Regulatory Mechanism of Mitochondrial Homeostasis in Erythroid Cells

Rahul Roy, MSc¹^*, Prajwal Boddu, MD² and Manoj Pillai, MD¹

¹Yale University, New Haven, CT
²Yale University, East Lyme, CT

1076

Dexamethasone Targets E2F4 to Induce Erythroid Progenitor Renewal

Julien Papoin, MS^1,2^*, Vincent P Schulz, PhD³^*, Fatima Khan, MS⁴^*, Betsy J. Barnes, DPhil¹, Jeffrey Michael Lipton, MD, PhD^5,6, Laurie A. Steiner, MD⁷, Mohandas Narla, DSc⁸, Patrick G. Gallagher, MD⁹ and Lionel Blanc, PhD^10,11

¹Feinstein Institutes for Medical Research, Northwell, Manhasset, NY
²HEMATIM site CHU, University of Picardy Jules Verne, Amiens, France
³Department of Pediatrics, Yale University School of Medicine, New Haven, CT
⁴Peds Hem Onc, Feinstein Institutes for Medical Research, Northwell Health, manhasset, NY
⁵The Feinstein Institutes for Medical Research, Manhasset, NY
⁶Cohen Children's Medical Center of NY, New Hyde Park, NY
⁷Center for Pediatric Biomedical Research, Department of Pediatrics, University of Rochester Medical Center, Rochester, NY
⁸Lindsley F. Kimball Research Institute, New York Blood Center, New York, NY
⁹Center for Perinatal Research, Nationwide Childrens, Ohio State University, Columbus, OH
¹⁰Feinstein Institutes for Medical Research, Manhasset, NY
¹¹Department of Molecular Medicine and Pediatrics, Zucker School of Medicine at Hofstra/Northwell, Hempstead, NY

1077

Differential Kinase Activity in Aged Erythrocytes Following Nutrient Replenishment: Insights from Phosphoproteomics and Motif Analysis

John Schell, MD, PhD¹, Emily Huntsman²^*, Tomer Yaron-Barir, PhD³^*, Jared Johnson, PhD⁴^* and Lewis Cantley, PhD⁴^*

¹Dana-Farber Cancer Institute, Somerville, MA
²Weill Cornell Medicine, New York City
³Columbia University, New York City
⁴Dana-Farber Cancer Institute, Boston, MA

1078

Single-Cell Sequencing Reveals Differential Erythroid Lineage Differentiation in Patients with PNH

Junshu Wu^1,2,3^*, Hui Liu, MD, PhD^1,2,3^*, Liyan Li^1,2,3^*, Wei Wang⁴^*, Zhaoyun Liu, PhD^1,2,3^* and Rong Fu, MD^1,2,3

¹Department of Hematology, Tianjin Medical University General Hospital, Tianjin, China
²Tianjin Institute of Hematology, Tianjin, China
³Tianjin Key Laboratory of Bone Marrow Failure and Malignant Hemopoietic Clone Control, Tianjin, China
⁴Shanghaitech University, Shanghai Institute For Advanced Immunochemical Studies And School Of Life Science And Technology, Shanghai, China

1079

BMI-1 Transduced Human Erythroid Cells: A Representative System for Modeling Transcriptional Programs during Terminal Erythroid Differentiation

Moira M. Lancelot, MD

Pathology, Emory University School of Medicine, Atlanta, GA

1080

A Single Mutation in the SENP1 Region Regulates the Excessive Erythropoiesis in the Andes

Priti Azad, PhD¹, Ali Akbari²^*, Dan Zhou¹^*, Orit Poulsen³^*, Prashant Mali⁴^*, Vineet Bafna³^* and Gabriel Haddad, MD⁵^*

¹University of California San diego, La Jolla, CA
²Harvard Medical School,, Boston
³UCSD, La Jolla, CA
⁴University of California San diego, La Jolla
⁵University of California San Diego, La Jolla, CA

1081

The G6PD a- Variant Does Not Modulate Pulmonary Hypertension Phenotypes in Mice

Mouna Ouchari, PhD¹, Qinzi Xu, MD¹^*, Akueba Bruce¹^*, Ling Wang, PhD²^*, Elizabeth Rochon, PhD¹^* and Mark T. Gladwin, MD³^*

¹University of Maryland School of Medicine, University of Maryland, Baltimore, Maryland, USA, baltimore, MD
²Department of Orthopedics and Rehabilitation, University of Iowa, Iowa City, Iowa, USA, Lowa city, IA
³Department of Medicine, University of Maryland School of Medicine, Baltimore, MD

1082

A Novel GATA1 (E200K) Germline Mutation Causing Hydrops Fetalis with Spontaneous Resolution of Erythropoiesis

Harry Layton Lesmana, MD¹, Te Ling, PhD², Alexandria Haseley, MS, CGC³^*, Marissa Coleridge, MS, CGC³^* and John D. Crispino, PhD²

¹Department of Pediatric Hematology, Oncology and BMT, Cleveland Clinic, Cleveland, OH
²Department of Hematology, St. Jude Children's Research Hospital, Memphis, TN
³Department of Medical Genetics and Genomics, Cleveland Clinic, Cleveland, OH

1083

High Incidence of Thalassemia Traits Among Myelodysplastic Syndrome Patients May Mask Macrocytic Anemia but Not the Enhanced Proteasome Proteolytic Activity

Pinelopi Vryttia, MD¹^*, Konstantina Theoharaki, BS²^*, Christina Apostolopoulou, MD¹^*, Georgia Tzafa, BS²^*, Aggeliki Kondi, BS²^*, Eugenia Kazolia, BS²^*, Elina Vassilakou, BS²^*, Sotiris Karapatakis, BS²^*, Ioannis V Kostopoulos, PhD²^*, Ourania Tsitsilonis, MD, PhD²^*, Anthi Bouchla, MD, PhD¹^*, Sotirios G. Papageorgiou, MD, PhD¹^*, Thomas Thomopoulos, MD¹^*, Vasiliki Pappa, MD, PhD¹ and Marianna Antonelou, PhD²^*

¹Second Department of Internal Medicine and Research Institute, Hematology Unit, National and Kapodistrian University of Athens, Medical School, University General Hospital "Attikon", Athens, Greece
²Department of Biology, School of Science, National and Kapodistrian University of Athens (NKUA), Athens, Greece

1084

Loss of ATG5 in Humans Causes Syndromic Congenital Dyserythropoietic Anemia with Impaired Mitophagy in Late Stages of Terminal Erythropoiesis

Athina Ntoumaziou, MD¹^*, Duc Nguyen²^*, Yasmin Elgammal, MD, MSc¹^*, Ammar Husami³^*, Wenying Zhang^3,4^*, Kaitlin D Weaver, DO⁵^*, Jennifer L. Kasten, MD, MSc⁶^*, David D. Grier, MD^4,7^*, Yi Tu, Zheng, PhD^1,4, Carolyn Lutzko, PhD^4,8^*, Mary Risinger, PhD¹^*, Jan Frayne, PhD⁹^*, Katie Seu, PhD^1,4 and Theodosia A. Kalfa, MD, PhD^1,4

¹Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH
²Department of Cancer Biology, University of Cincinnati, Cincinnati, OH
³Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH
⁴Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH
⁵Division of Pathology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH
⁶Department of Pathology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH
⁷Division of Pathology, Cincinnati Children's Hospital Medical Center, Cincinnati
⁸Division of Experimental Hematology and Cancer Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH
⁹Department of Biochemistry, University of Bristol, Bristol, United Kingdom

1085

Development of LC-MS/MS Method for 2,3-Dpg Measurement in Human RBCs

Shilpa Sharma^1,2^*, Johanna ten Hoeve, PhD³^*, Elizabeta Nemeth, PhD⁴ and Tomas Ganz, MD, PhD⁴

¹Veteran Affairs Greater Los Angeles Health Care System, Los Angeles, CA
²UCLA, Los Angeles, CA
³UCLA Metabolomics Center, Los Angeles
⁴Center for Iron Disorders, University of California, Los Angeles, Los Angeles, CA

1086

Toward the Creation of Diagnostic Algorithms for Congenital Hemolytic Anemia Using Advanced Parameters from Modern Hematology Analyzers

Paola Bianchi, PhD, BSc¹, Azita Sharif, MD²^*, Cristina Vercellati, PhD³^*, Elisa Fermo, PhD³^*, Maria Laura Chiaretto²^*, Anna Marcello, PhD³^*, Anna Zaninoni, BSc³^*, Nadia Mirra, MD⁴^*, Simona Torricelli²^*, Virna De Zordi²^*, Stefania Bottalico²^*, Francesco Passamonti, MD^5,6^*, Wilma Barcellini, MD⁷^*, Matteo Vidali, MD²^* and Anna Chiara Migliorini, MD⁸^*

¹Hematology Unit, Pathophysiology of Anemias Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milano, Italy
²Clinical Pathology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan, Milan, Italy
³Hematology Unit, Pathophysiology of Anemias Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy
⁴Pediatric Clinic/DH, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan, Milan, Italy
⁵Dipartimento di Oncologia ed Onco-Ematologia, Università degli Studi di Milano, Milan, Italy
⁶SC Ematologia, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico di Milano, Milan, Italy
⁷Hematology Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy
⁸Clinical Pathology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy

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^*signifies non-member of ASH

101.P1.59 101. Red Cells and Erythropoiesis, Excluding Iron: Poster I