50th ASH Annual Meeting and Exposition (December 6 - 9, 2008): Thalassemia and Globin Gene Regulation Poster I

Saturday, December 6, 2008: 5:30 PM-7:30 PM

Hall A (Moscone Center)

Analysis of DNA Methylation at the Human Alpha Globin Cluster during Hematopoiesis

Supachai Ekwattanakit¹^*, Helena Ayyub¹^*, Kevin Clark¹^*, Fatima Marques-Kranc¹^*, Sue Butler¹^*, Jackie Sloane-Stanley¹^*, Jacqueline A Sharpe¹^*, Stefano Colella²^*, Jiannis Ragoussis²^*, Vip Viprakasit³, Richard J Gibbons¹^* and Douglas R Higgs¹

¹MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Oxford, United Kingdom
²Genomics Group, Wellcome Trust Centre for Human Genetics, Oxford, United Kingdom
³Faculty of Medicine/Dept of Pediatrics/Division of Haematology-Oncology, Mahidol University, Bangkok, Thailand

1862

Genetic Modulators: Prevalence and Their Effect on the Phenotype of HbE/β Thalassemia Patients

Vineeta Sharma^* and Renu Saxena^*

Hematology, All India Institute of Medical Sciences, Delhi, India

1863

Epigenetic Analysis of Beta-Globin Gene Cluster during Hematopoiesis

Supachai Ekwattanakit¹^*, Suchada Riolueang²^* and Vip Viprakasit³

¹MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Oxford, United Kingdom
²Faculty of Medicine/Dept of Immunology, Mahidol University, Bangkok, Thailand
³Faculty of Medicine/Dept of Pediatrics/Division of Haematology-Oncology, Mahidol University, Bangkok, Thailand

1864

Regulation of Chromatin Looping and Transcription by PRMT1 Mediated H4R3 Methylation

Xingguo Li, PhD¹^*, Xin Hu¹^*, Zhuo Zhou¹^*, Yi Qiu, PhD¹^*, Gary Felsenfeld, PhD²^*, Jorg Bungert, PhD¹^* and Suming Huang, PhD¹

¹Biochemistry and Molecular Biology, University of Florida College of Medicine, Gainesville, FL
²Laboratory of Molecular Biology, NIDDK, NIH, Bethesda, MD

1865

Fetal-to-Adult Hemoglobin Switching Is Associated with up-Regulation of Specific MicroRNA Species in Circulating Human Erythroid Cells

Seung-Jae Noh, PhD¹^*, Samuel Miller²^*, Y.Terry Lee, MS¹^*, Francesco M. Marincola, MD²^*, David Stroncek, MD²^*, Christopher Reed, MD³^*, Ena Wang, MD²^* and Jeffery L Miller, MD¹

¹Molecular Medicine Branch, NIDDK, NIH, Bethesda, MD
²Transfusion Medicine, National Institutes of Health, Bethesda, MD
³Obstetrics & Gynecology, National Naval Medical Center, Bethesda, MD

1866

Gamma-Globin Gene Expression in Adult Human Erythroblasts Is Associated with Concurrent Changes in the Nuclear Protein Levels of at Least Seven Transcription Factors

Orapan Sripichai, PhD^*, Y.Terry Lee, MS^*, Toshihiko Tanno, PhD^*, Seung-Jae Noh, PhD^*, Colleen Byrnes, MS^*, Emily Riehm Meier, MD^* and Jeffery L Miller, MD

Molecular Medicine Branch, NIDDK, NIH, Bethesda, MD

1867

Regulation of the Human α-Globin Genes by GKLF

Paolo Moi, MD¹, Giuseppina Maria Marini, PhD²^*, Loredana Porcu, PhD¹^*, Isadora Asunis²^*, Maria Giuseppina Loi²^*, Lisa Anna Cabriolu²^* and Antonio Cao, M.D.²^*

¹Scienze Biomediche e Biotecnologie, Unversità di Cagliari, Cagliari, Italy
²Inn, CNR, Monserrato, Italy

1868

Increased Nucleosomal DNA Fragmentation in Leukocytes of Thalassemia Patients

Patrick B Walter, PhD¹^*, John B Porter, MD²^*, Patricia Evans, PhD²^*, Janet Kwiatkowski, MD³, Ellis J. Neufeld, MD, PhD⁴^*, Thomas D. Coates, MD⁵, Patricia Giardina, MD⁶, Robert jW Grady, PhD⁶^*, Elliott Vichinsky, MD¹, Nancy F. Olivieri, MD⁷, Felicia Trachtenberg, PhD⁸^*, Daniele Alberti, MD⁹^*, Ellen Fung, PhD¹^*, Bruce Ames, PhD¹⁰^*, Annie Lui, BS¹^* and Paul Harmatz, MD¹

¹Hematology/Oncology Dept., Children's Hospital & Research Center Oakland, Oakland, CA
²University College London, London, United Kingdom
³Pediatrics/Hematology, Children's Hosp. of Phila., Philadelphia, PA
⁴Hematology/Oncology, Children's Hospital, Harvard Medical School, Boston, MA
⁵Children's Hospital of LA, Los Angeles, CA
⁶Cornell Medical College, New York Presbyterian Hospital, New York, NY
⁷Toronto General Hospital, University Health Network, Toronto, ON, Canada
⁸New England Research Institutes, Watertown, MA
⁹Novartis Pharmaceuticals Corp, East Hanover, NJ
¹⁰Children's Hospital Oakland Research Institute, Oakland, CA

1869

Characterization of Histone Deacetyalses Involved in γ-Globin Gene Regulation

Shalini A Muralidhar, MS^*, Sadeieh Nimer^* and Betty Pace, MD

Molecular and Cell Biology, The University of Texas at Dallas, Richardson, TX

1870

Role of Cjun in Gγ-Globin Gene Trans-Activation

Sirisha Kodeboyina, MS^*, Sima Zein, PhD^*, Moosueng Lee, MS^*, Parimaladevi Balamurugan, BS^*, Xiao Yao, PhD^* and Betty Pace, MD

Sickle Cell Disease Research Center and University of Texas at Dallas, Richardson, TX

1871

TPO Exerts a Protective Effect on Iron-Induced Apoptosis Via Erk1/2 Signaling in Human Mesenchymal Stem Cells

Wei Zhang¹^*, Mo Yang²^*, Shing Chan²^* and Godfrey ChiFung Chan, MD³

¹School of Laboratory Medicine, Tianjin University Medical College, Tianjin, China
²Department of Pediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, China
³Queen Mary Hospital, Hong Kong, Hong Kong

1872

Iron-Overload Induces Apoptosis in Cardiomyocytes and Hepatocytes Via Mitochondrial/Caspase-3 Pathways

Mo Yang¹^*, Shing Chan¹^*, Yiu Fai Cheung¹^*, Shau Yin Ha¹ and Godfrey ChiFung Chan, MD²

¹Department of Pediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, China
²Queen Mary Hospital, Hong Kong, Hong Kong

1873

Increased Adhesive Properties and Reactive Oxygen Species of Red Cells, Platelets and Leukocytes and Neutrophil Chemotaxis in IVS-1-6 (T→C) Homozygous β-Thalassemia Intermedia

Carla Fernanda Franco-Penteado, B.Sc., M.Sc., Ph.D¹^*, Marcos André Cavalcanti Bezerra, B.Sc., M.Sc¹^*, Mariana R. B. Mello, B.Sc., M.Sc¹^*, Sheley Gambero, B.Sc., M.Sc¹^*, Dulcinéia M Albuquerque, B.Sc., M.Sc., Ph.D¹^*, Carolina Lanaro, B.Sc., Ph.D¹^*, Sara T.O. Saad, MD, PhD¹, Aderson S. Araújo, M.D., Ph.D.²^* and Fernando F. Costa, PhD, MD¹

¹Hematology and Hemotherapy Center, State University of Campinas, Campinas, Brazil
²Hematology and Hemotherapy Center of Pernambuco, HEMOPE, Recife, Pernambuco, Brazil

1874

Genetic Modifiers of Homozygous Beta Zero Thalassemia

Renzo Galanello, MD¹^*, Serena Sanna²^*, Lucia Perseu³^*, Maria Carla Sollaino¹^*, Stefania Satta¹^*, Manuela Uda³^*, Gianluca Usala³^*, Goncalo Abecasis⁴^*, David Schlessinger⁵^* and Antonio Cao, MD⁶

¹Dip. di Scienze Biomediche E Biotec., Ospedale Regional Microcitemici A.S.L., Cagliari, Italy
²Istituto di Genetica e Neurofarmacologia,, Consiglio Nazionale delle Ricerche, Cagliari, Italy
³Istituto di Genetica e Neurofarmacologia, Consiglio Nazionale delle Ricerche, Cagliari, Italy
⁴Center for Statistical Genetics,, University of Michigan, Ann Arbor, MI
⁵Gerontology Research Center,, National Institute on Aging, Baltimore, MD
⁶Inst. di Clin. Bio. Eta Evolutiva, Cagliari, Italy

1875

Genome-Wide Association Study for Hb F Determinants in Sardinian Patients with Thalassemia Major and Intermedia

Franco Anni¹^*, Renzo Galanello²^*, Saul Surrey³, Paolo M. Fortina⁴, Mark Bowser⁵^* and Marcella Devoto⁵^*

¹2ª Clinica Pediatrica, ASL Ospedale Regionale Microcitemie, Cagliari, Italy
²2a Clinica Pediatrica, Universitá di Cagliari, Cagliari, Italy
³Medicine, Thomas Jefferson University, Philadelphia, PA
⁴Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, PA
⁵Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA

1876

The Effect of Dietary Iron on Tissue Iron Levels in Intact and Splenectomized Mice Affected by β-Thalassemia

Maria Franca Marongiu^*, Kristen Muirhead^*, Sara Gardenghi^*, Ella Guy^*, Stefano Rivella and Robert W Grady^*

Weill Cornell Medical College, New York, NY

1877

Potential Use of Jak2 Inhibitors to Limit Ineffective Erythropoiesis and Reverse Splenomegaly in β-Thalassemia

Luca Melchiori¹^*, Ella Guy¹^*, Ilaria Libani, Ph.D¹^*, Raffaella Schirò, MD, Ph.D¹^*, Pedro Ramos¹^*, Laura Breda, Ph.D¹^*, Amy Chadburn, MD¹^*, Yi-Fang Liu¹^*, Maria De Sousa, MD²^*, Eliezer Rachmilewitz, M.D³, Patricia J Giardina, MD¹^*, Robert W Grady, Ph.D¹^* and Stefano Rivella, Ph.D¹^*

¹Pediatrics, Weill Cornell Medical College, New York, NY
²Instituto de Biologia Molecular e Celular, Porto, Portugal
³Hematology, The Edith Wolfson Medical Center, Holon, Israel

1878

A Novel Model of Short Chain Fatty Acid (SCFA)- Mediated up-Regulation of Embryonic/Fetal Globin Genes during Definitive Erythropoiesis

Himanshu Bhatia, MS, MD¹^*, Jennifer L. Hallock, BS²^*, Lauren E. Sterner, BA²^*, Shay Karkashon, BTech¹^*, Amrita Dutta, PhD¹^*, Toru Miyazaki, MD, PhD³^*, Ann Dean, PhD²^* and Jane Little, MD⁴

¹Medicine, Albert Einstein College of Medicine, Bronx, NY
²Laboratory of Cellular and Developmental Biology, NIDDK, National Institutes of Health, Bethesda, MD
³Division of Molecular Biomedicine for Pathogenesis, Center for Disease Biology and Integrative Medicine, Faculty of Medicine, The University of Tokyo, Tokyo 113-0033, Japan
⁴Albert Einstein College of Medicine, Bronx, NY

1879

Hydroxyurea in Children with Beta Thalassemia Intermedia

Ram Kumar Marwaha¹^*, K. Naranje¹^*, Inusha Panigrahi¹^* and R. Das²^*

¹Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India
²Hematology, Postgraduate Institute of Medical Education and Research, Chandigarh, India

1880

Hemoglobin H-Constant Spring in North America: A Common Alpha Thalassemia with Frequent Complications

Titi Singer¹, Hae-Young Kim²^*, Nancy F Olivieri³, Janet Kwiatkowski⁴, Ashutosh Lal¹^*, Thomas D. Coates⁵, Susan Carson⁵^*, Melody J. Cunningham⁶, Patricia J Giardina⁷^*, Brigitta U Mueller⁸, Charles Quinn⁹^*, Elliott Vichinsky¹ and Thalassemia Clinical Research Network¹⁰^*

¹Pediatric Hematology/Oncology, Children's Hospital & Research Center Oakland, Oakland, CA
²New England Research Institutes, Watertown, MA
³Toronto General Hospital, University Health Network, Toronto, ON, Canada
⁴Division of Hematology, Children's Hospital Philadelphia, Philadelphia, PA
⁵Children's Center for Cancer & Blood Diseases, Children's Hospital Los Angeles, Los Angeles, CA
⁶Hematology, Children's Hospital Boston, Boston, MA
⁷Hematology/Oncology, Weill Medical College of Cornell, New York, NY
⁸Baylor College of Medicine, Texas Children's Hospital, Houston, TX
⁹Division of Pediatric Hematology/Oncology, UT Southwestern Medical Center at Dallas, Dallas, TX
¹⁰NHLBI

1881

Growth Differentiation Factor 15 (GDF15) and Erythropoietin (EPO) Levels in Beta Talassemia Major Patients

Ilaria Salussoglia, MD^*, Gisella Volpe, PhD^*, Silvia Fracchia, MD^*, Simona Roggero, MD^*, Filomena Longo, MD^* and Antonio Piga, MD

Biological and Clinical Sciences, University of Turin, Turin, Italy

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^*signifies non-member of ASH

112.P1.42 Thalassemia and Globin Gene Regulation Poster I