66th ASH Annual Meeting: 112. Thalassemia and Globin Gene Regulation: Poster I

Symposia: Thalassemia and Globin Gene Regulation Oral and Poster Abstracts
Poster

Research, Sickle Cell Disease, Translational Research, Thalassemia, Clinical Research, Hemoglobinopathies, Pediatric, Diseases, Real-world evidence, Registries, Emerging technologies, Technology and Procedures, Study Population, Human, Molecular testing, Newborn Screening

Halls G-H (San Diego Convention Center)

1094

A New Diagnostic Method for Premarital Screening of Thalassemia and Hemoglobinopathies: Microchip Electrophoresis (Gazelle) Method

Duran Canatan^1,2,3^*, Serpil Delibaş¹^*, Emel Altunsoy³^*, Yunus Budak³^*, Elif Gözde Gökkaya²^*, Sultan Aydın⁴^*, Defne Ay Tuncel⁵^*, Priyaleela Thota⁶^*, Akshat Jain, MD, MPH⁷ and Umut Gurkan, PhD⁸

¹Hemoglobinopathy Diagnosis Thalassemia Center of Mediterranean Blood Diseases Foundation, Antalya, Turkey
²Antalya Bilim University, Antalya, Turkey
³Antalya Genetic Diseases Assessment Center, Antalya, Turkey
⁴Thalassemia Center, Health Sciences University, Antalya Education and Research Hospital, Antalya, Turkey
⁵Pediatric Hematology Oncology Clinic, Health Sciences University, Adana City Training and Research Hospital, Adana, Turkey
⁶Hemex Health, USA, Portland, OR
⁷Clinical Medicine and Pediatrics, Division of Hematology,Oncology and Cell Therapy, Loma Linda University School of Medicine, Redlands, CA
⁸Case Western Reserve University, Shaker Heights, OH

1095

Benefits of Targeted Next Generation Sequencing (NGS) for Identification of Newborn Hemoglobinopathies: The California Experience

Sylvia Titi Singer, MD¹, Yu Hou, PhD²^*, Rajesh Sharma, PhD, FACMG³^*, Elliott P. Vichinsky, MD⁴, Adriane Meyer, CGMBS⁵^*, Jennifer Martinez, CLS⁵^*, Cindy Wu, PhD⁶^*, Tracey Bishop⁶^* and Shabnam Tavassoli, PhD, CLS⁵^*

¹hematology/Oncology, UCSF Benioff Children's Hospital Oakland, Oakland, CA
²California Department of Public Helath, Genetic Disease Laboratory, Genetic Disease Screening Program, Richmond, CA
³Genetic Disease Screening Program, California Department of Public Health, Richmond, CA
⁴Department of Pediatrics, Division of Hematology, University of California San Francisco Benioff Children's Hospital, Oakland, CA
⁵Hemoglobin Reference Laboratory/UCSF Benioff Children's Hospital Oakland, Oakland, CA
⁶California Department of Public Health, Genetic Disease Screening Program, Richmond, CA

1096

Pulmonary Dysfunction in Patients with Transfusion-Dependent Thalassemia

Xiao Liang¹^*, Gaohui Yang¹^*, Lingling Shi¹^*, Lianjin Liu¹^*, Zhenbin Wei¹^*, Yumei Huang¹^*, Jing Bai²^*, Yi Liang²^*, Lingyuan Pan¹^*, Zhaoping Gan¹^*, Yu Lin¹^*, Yibin Yao¹^*, Ying Tang¹^*, Huicheng Huang¹^*, Xuemei Zhou¹^*, Qifa Liu, MD³, Yongrong Lai, MD^1,4,5^* and Rongrong Liu, Doctor^1,4,5^*

¹Department of Hematology, The First Affiliated Hospital of Guangxi Medical University, Nanning, China
²Department of Respiratory and Critical Care Medicine, The First Affiliated Hospital of Guangxi Medical University, Nanning, China
³Department of Hematology, Nanfang Hospital, Southern Medical University, Guangzhou, China
⁴NHC Key Laboratory of Thalassemia Medicine, Nanning, China
⁵Guangxi Key Laboratory of Thalassemia Research, Nanning, China

1097

Donor Trait Status Determines Haematological Outcomes Post-Haemopoietic Stem Cell Transplantation in Transfusion Dependent Thalassaemia Independent of HLA Matching and Chimerism Status

Kinza Khan¹^*, Farah O'Boyle²^*, Kirstin Lund, MRCP, BSc³^*, Toni Petterson⁴^*, Sandrine Bremathas, RN⁵^*, Kelly Hennessy⁶^*, Adam Gassas, MD⁷^*, Leena Karnik, FRCPath, MRCP⁸^* and Josu de la Fuente, PhD FRCP^9,10,11,12

¹Imperial College London, Gillingham, ENG, United Kingdom
²St. Marys Hospital, London, United Kingdom
³St Marys Hospital, Imperial College London, London, GBR
⁴St Marys Hospital, Imperial College NHS Foundation Trust London, London, GBR
⁵IMPERIAL COLLEGE HEALTHCARE NHS TRUST, London, United Kingdom
⁶St Marys Hospital, Imperial College London, London, United Kingdom
⁷St Marys Hospital, Imperial College NHS Foundation Trust, London, United Kingdom
⁸St Marys Hospital, Imperial College NHS Foundation Trust, London, GBR
⁹Department of Paediatrics, St Mary’s Hospital, Imperial College Healthcare NHS Trust, London, United Kingdom
¹⁰Division of Immunology and Inflammation, Imperial College London, London, United Kingdom
¹¹Imperial College Healthcare Trust, St Mary's Hospital, London, United Kingdom
¹²Imperial College Healthcare NHS Trust, Hammersmith Hospital, London, United Kingdom

1098

Estimated Prevalence of β-Thalassemia in the United States in 2023

Kasey Fu¹^*, Katherine Lawson-Michod²^*, Michael Goodman²^*, Cathy Lally²^* and Jelili Ojodu, MPH³^*

¹Vertex Pharmaceuticals Incorporated, Boston, MA
²Epidemiologic Research & Methods, LLC, Atlanta, GA
³Association of Public Health Laboratories, Silver Spring, MD

1099

Comparing Estimated Glomerular Filtration (eGFR) Equations in Patients with Transfusion-Dependent Thalassemia

Olubunmi Ogunsanya, MD¹^*, Amrit Kirpalani, MD¹^*, Jennifer Zavitz²^*, Ashley Geerlinks, MD¹ and Soumitra Tole, MD, MSc¹^*

¹Department of Pediatrics, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada
²Children's Hospital, London Health Sciences Center, London, ON, CAN

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^*signifies non-member of ASH

112.P1.16 112. Thalassemia and Globin Gene Regulation: Poster I