64th ASH Annual Meeting and Exposition: 101. Red Cells and Erythropoiesis, Excluding Iron II

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

Research, Fundamental Science, Translational Research, Genetic Disorders, genomics, bioinformatics, hematopoiesis, pediatric, Diseases, immunology, metabolism, Biological Processes, Technology and Procedures, molecular biology, Study Population, Human, omics technologies

243-245 (Ernest N. Morial Convention Center)

Moderators:

Craig M Forester, MD, PhD, University of Colorado-Anschutz Medical Center; Childrens Hospital of Colorado and Merlin Nithya Gnanapragasam, Cleveland State University

Disclosures:

No relevant conflicts of interest to declare.

Exploring novel mechanisms of genetic perturbations and pleiotropic roles of cannonical signaling pathways underlying erythroid maturation.

12:00 PM

511

De Novo Germline DHX38 Variant Associated with Alternative Splicing of Multiple Transcripts in Iron-Related Pathways in a Patient with Atypical Congenital Dyserythropoietic Anemia with Ring Sideroblasts

Aikaterini Voulgaridou, MD¹^*, Yasmin Elgammal, MD, MSc¹^*, Ammar Husami²^*, Sana Emberesh, MBBS¹^*, Katie Seu, PhD¹, Mahesh Ramamoorthy³^*, Lisa Trump, PhD¹^*, Nathaniel Barasa⁴^*, Adam S Nelson, MBBS⁵, Robert B. Lorsbach, MD, PhD⁶^*, Laurel Romano¹^*, Nathan A. Salomonis, PhD⁷^*, Wenying Zhang, MD, PhD⁴^*, Carolyn Lutzko, PhD⁸^* and Theodosia A. Kalfa, MD, PhD¹

¹Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH
²Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH
³Cleveland State University, Cleveland, OH
⁴Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH
⁵Sydney Children's Hospital, Randwick, NSW, Australia
⁶Division of Pathology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH
⁷Division of Bioinformatics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH
⁸Division of Experimental Hematology and Cancer Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH

12:15 PM

512

GATA1-Dependent Ceramide Homeostasis Controls Cytokine Signaling and Erythroid Cell Function

Ruiqi Liao, PhD¹^*, Abiola Babatunde¹^*, Joshua J Coon, PhD²^*, Katherine A Overmyer, PhD²^*, Chiara Luberto, PhD³^*, Yusuf A. Hannun, MD³^* and Emery H. Bresnick, PhD¹

¹Wisconsin Blood Cancer Research Institute, Department of Cell and Regenerative Biology, Carbone Cancer Center, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI
²Department of Chemistry, Department of Biomolecular Chemistry, National Center for Quantitative Biology of Complex Systems, University of Wisconsin-Madison, Madison, WI
³Department of Physiology and Biophysics, Stony Brook University, Stony Brook, NY

12:30 PM

513

Novel Immediate Direct Targets of EPO Signalling in Human Erythropoiesis

Charlene Lam, BSc¹^*, Kevin Gillinder, BSc PhD¹^*, Natalia Carvajal, BSc²^*, Helen Lorraine Mitchell, BSc¹^*, Graham William Magor, BSc¹^* and Andrew Charles Perkins, MBBS, PhD^1,3

¹Australian Centre for Blood Diseases, Monash University, Melbourne, VIC, Australia
²Central Clinical School, Monash Unviersity, Melbourne, VIC, Australia
³Department of Haematology, The Alfred Hospital, Melbourne, Australia

12:45 PM

514

Mutation in Erythroid-Specific Transcription Factor EKLF/KLF1 Elevates Erythroid Metabolism and Induces Inflammation

Tasleem Arif, PhD¹^* and James J Bieker, PhD²

¹Department of Cell, Developmental, & Regenerative Biology, Icahn School of Medicine at Mount Sinai, New York, NY
²Cell, Developmental, and Regenerative Biology, Icahn School of Medicine at Mount Sinai, New York, NY

1:00 PM

515

Erythropoietin Administration Delays B Cell Maturation and Promotes B Cell to Erythroid Transdifferentiation in Mice

Albert Kolomansky, MD^1,2^*, Anton Gorodov, BSc²^*, Stav Kislev, BSc^2,3^*, Nathalie Ben-Califa, PhD²^*, Alana Starr²^*, Yankel Gabet, DMD PhD⁴^*, Martina Rauner, PhD⁵^*, Ben Wielockx, PhD⁶^*, Moshe Mittelman, MD^7,8, Howard S. Oster, MD PhD^7,9 and Drorit Neumann, PhD²

¹Department of Hematology, Assuta-Ashdod University Hospital, Ashdod, Israel
²Department of Cell and Developmental Biology, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel
³Faculty of Medicine, Technion Israel Institute of Technology, Haifa, Israel
⁴Department of Anatomy and Anthropology, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel
⁵Center for Healthy Aging, Medical Faculty of the Technische Universität Dresden, Technische Universität Dresden, Dresden, Germany
⁶Institute of Clinical Chemistry and Laboratory Medicine, Department of Clinical Pathobiochemistry, Technische Universität Dresden, Dresden, Germany
⁷Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel
⁸Department of Hematology, Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel
⁹Department of Internal Medicine A, Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel, Israel

1:15 PM

516

Congenital Erythrocytosis Due to Novel CMTR1^K769L Mutation Has Augmented Hypoxia Signaling and Features of Both Primary and Secondary Erythrocytosis

Jihyun Song, PhD¹, Lorenzo D. Botto, MD²^*, Beverly Schaefer, MD³, Soo Jin Kim, MS¹^*, Tatiana Tvrdik, PhD, MSc^4,5^*, Rong Mao, MD⁶^*, Undiagnosed Diseases Network (UDN)⁷^* and Josef T. Prchal, MD¹

¹Division of Hematology, Huntsman Cancer Institute, University of Utah, Salt Lake City, UT
²Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT
³Department of Pediatric Hematology Oncology, Roswell Park Comprehensive Cancer Center, Buffalo, NY
⁴Department of Pathology and Laboratory Medicine, Emory University, Atlanta, GA
⁵Division of Medical Genetics, Department of Pediatrics, School of Medicine, University of Utah, Salt Lake City, UT
⁶Department of pathology, ARUP laboratory, University of Utah, Salt Lake City, UT
⁷National Institutes of Health, Bethesda, MD

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^*signifies non-member of ASH

101.O2.6 101. Red Cells and Erythropoiesis, Excluding Iron II