Open access peer-reviewed Edited Volume

Thalassemia Updates and Novel Developments

Akshat Jain

Loma Linda University Children's Hospital

A board-certified pediatrician with a specialization in pediatric hematology-oncology and stem cell transplantation. In collaboration with Harvard Medical School, he studied and reported the outcomes of a global hemophilia collaboration. He is a member of the American Board of Pediatrics, Hematology, and American Board of Pediatrics, also he is a Committee member for the American Society of Pediatric Hematology-Oncology Special Interest Group in Global Pediatric Hematology oncology.

Covering

History of Gene Mutation Genetic Counselling Anemia Genotyping Hemoglobin Electrophoresis HLA typing Hemolysis Aplastic Anemia Blood Transfusion Laboratory Testing Fetal Hemoglobin Modifiers Gene Therapy

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About the book

Thalassemia disease has stood the test of time and has persisted for thousands of years in humans. Global Disease Burden with Thalassemia still makes it one of the formidable inherited genetic noncommunicable diseases of concern which propagates in families due to lack of access to adequate genetic counseling facilities.

New developments in the form of improvement in stem cell transplantation and medication approval in the developed world have shown promise and need to be updated to every clinician managing thalassemia.
Basic science studies have provided new insights into the pathophysiology of β-thalassemia. Studies of genotypic and phenotypic heterogeneity among patients and a better understanding of the control of erythropoiesis have provided new targets for designing novel agents that can be tailored to individual patient needs. JAK-2 kinase inhibitors and agents targeting the GDF-11/SMAD pathway are in clinical trials.

This book will attempt to discuss the historical background of the disease and present the most up-to-date material regarding disease management in today's world for the reader to be updated on the best practice management of the disease.

Publishing process

Book initiated and editor appointed

Date completed: February 4th 2021

Applications to edit the book are assessed and a suitable editor is selected, at which point the process begins.

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Deadline for chapter proposals: March 4th 2021

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Deadline for full chapters: May 3rd 2021

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Review results due: July 22nd 2021

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Expected publication date: September 20th 2021

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About the editor

Akshat Jain

Loma Linda University Children's Hospital

Akshat Jain M.D. M.P.H. 11175 Campus Street Loma Linda, California 92354 Phone: (917) 331-3216 akshatjainusa@gmail.com MEDICAL EDUCATION ● S.S.R. Medical College, Belle Rive, Mauritius - MBBS, Bachelor of Medicine Bachelor of Surgery, 2007 ● Pediatrics Residency Training ,The New York Medical College, Metropolitan Hospital , Dec2008-Dec 2011 ● Pediatric Hematology Oncology and Stem Cell Transplant Fellowship, Cohen’s Children's Hospital of New York at LIJ-North Shore Health system. July 2012- September 2015 ● Master’s in Public Health ,Hofstra University School of Public Health ,New York , August 2015 HONORS/ AWARDS ● The New York Academy of Medicine Honorary Associate Award , December 2009 ● Program Leadership Award - Committee of Interns and Residents (C.I.R./SIEU), April 2010 ● American Academy of Pediatrics Program Delegate Award, New York Medical College, December 2010. ● Citation of Honor from New York County for Excellence in Medicine and Service to Long Island, New York,Nassau county executive chambers , August 15,2015 ● Times of India N.R.I. ( Non Resident Achiever ) award , August 2015 ● Certificate for academic excellence –Hofstra University School of Health Science & Human Services, New York August 26, 2015 ● American Society of Hematology Leadership Institute Award , April 2016 ● Global Health Speaker Award , convener of Global Health Symposium, Hofstra NorthWell School of Medicine and School of Public health , May 2016 ● International Pediatric Lymphoma Meeting ,Session Chairperson of Pediatric Lymphoma , Indian Society of Hematology and Oncology , November 2016 ● Content Leader Award for Hematology perspective’s in the Global CoronaVirus Pandemic Preparedness Response for Medical Association of physicians of Indian Origin, April 2020. ● Convener and Chairperson International Webinar for COVID 19 Coagulopathy, May 2020. ● Featured in the Top Doctors magazine 2020, ranked top pediatric Hematologist Oncologist for Southern California. NATIONAL/INTERNATIONAL POSITIONS ● Hofstra University Dean Advisory Board for the School of Health Professions, December 2017 ● Editorial Board – American Society of Pediatric Hematology Oncology Communications Committee, International Journal of Hematology Research (ISSN 2409-3548) ● Reviewer - JAMA Pediatrics (ISSN: 2168-6203), British Medical Journal (ISSN, 1468-5833), JAMA Oncology (ISSN: 2374-2437), International Journal of Hematology Research (ISSN 2394—806X), Journal of Pediatric Hematology and Oncology (ISSN: 1536-3678), New England Journal of Medicine (Resident 360). ● Member – Core committee: American Cancer Society (A.C.S.) and American Academy of Pediatrics (A.A.P.) - Joint global pediatric Oncology taskforce. ● Advisor -World Health Organization, South East Asia for maternal and child health initiatives.( 2013-Ongoing) , Ministry of Health and Family Welfare ,Government of India ( 2014- Ongoing ) , American Academy of Pediatrics &American Cancer Society Global Taskforce on Pediatric Cancers.( 2014-Ongoing ) ● Editor – AAPI journal (American Association of Physicians of Indian Origin. Circulation -40,000) ● Visiting Professorship in Hematology Oncology and Stem Cell Transplantation, Rajasthan University of Medical Sciences, India. ( 2009-Ongoing ) ● Industry Advisor – Bayer, UniQure, Sanofi-Genzyme, Takeda, CSL Behring ● Director of International Bone Marrow Failure Consortium- India, part of the Global Hematology Initiative of Cohen Children’s Medical Center, New York, August 2015-2017. ● Committee member for the American Society of Pediatric Hematology Oncology Special Interest Group in Global Pediatric Hematology oncology. ( 2016- Ongoing) WORK EXPERIENCE Nov 2017- Current Loma Linda University Children’s Hospital Director Division of Pediatric Hematology Director, Comprehensive Hemophilia Program Director, Comprehensive Sickle Cell Program Division of Pediatric Hematology Oncology and Stem Cell Transplantation Professor of Public Health, Loma Linda University School of Public Health Mar 2017– Oct 2017 Pediatrics and Pediatric Hematology Oncology Practice Adventist Health Ukiah Valley, California Sept 2015 –Aug 2016 Assistant Professor Pediatrics, Hofstra North Shore LIJ School of Medicine Section Head –Global Pediatric Hematology Oncology and Stem Cell Transplantation North Shore LIJ Health system. Associate Adjunct Faculty, Hofstra University School of Public Health. July 2012 – Sep 2015 The Steven and Alexandra Cohen’s Children's’ Hospital of New York at LIJ-North Shore Hofstra University - Pediatrics Hematology Oncology and Stem Cell Transplant Fellowship Chief - Jeffrey Lipton MD Dec 2011- April 2012 Global Health : SMS Medical College and Group of Hospitals, Government of India Project Director for Project A.G.N.I. - Set up a regional Lead Poisoning prevention and anemia nodal center Course Director - Pediatric Subspecialty training module for Pediatricians at J.K. Lone Children’s Hospital for Government of India. Dec 08- Dec 2011 The New York Medical College, Residency in Pediatrics Metropolitan Hospital, NY Maria Fareri Children's Hospital at Westchester. The Memorial Sloan Kettering Hospital. NY House staff on Stem Cell Transplantation service. April – August 2008 Oklahoma State Medical Association (O.S.M.A.) Externship Program The Integris Baptist Teaching Hospital and Nazih Zuhdi Transplant Center RESEARCH EXPERIENCE Nov 2017 – Ongoing: Current and ongoing – Director, Inherited Bleeding Disorder Experimental Therapeutics Program, Loma Linda University School of Medicine Jan 2014 –July 2015 - Hofstra University School of Public Health Needs Assessment to barriers in cancer care for newly diagnosed patients in a resource Limited setting. Principal Investigator - Akshat Jain, Co-PI -Corrine Kyriacou June 2012- July 2015 - Steven and Alexandra Cohen Children’s Medical Center Study – Non Invasive assessment of endothelial dysfunction in children with Sickle cell Disease. Co-Principal Investigator – Banu Aygun MD Study – Multicenter study assessing outcome of Reduced Intensity Conditioning for patients undergoing hematopoetic stem cell transplantation for Sickle cell disease . Co-Principal Investigator – Indira Sahdev MD Jan 2012- Mar12 A.G.N.I. (Anterograde Growth Normalization Initiative) Project Director, Project of Government of India for establishment of Universal Lead Independent Pilot project to study effects of Elevated Blood Lead levels in children suffering from Developmental disorders- Adapted by W.H.O. 2014 for a National Level Lead Screening program, India Jan 2009- Dec11 The New York Medical College, Metropolitan Hospital Center. NY Resident Physician – Hypothalamic volumes in patients with Growth Hormone deficiency. Maria Fareri Children's hospital / Dr.Richard Noto - Pediatric Endocrinology April 2008-Dec 08 Nazih Zuhdi Transplant Institute, Integris Baptist Hospital, Oklahoma City Project – Single institution outcome study for Solid organ transplants Research Assistant Department of Hepatology Oct 2007 – Dec07 Mount Sinai School of Medicine, New York, NY Project- Arterio-venous fistula post liver transplantation. Research mentor-Dr. Charissa Chang, Assistant Professor in Department of Liver Diseases. CERTIFICATION 1. California State Medical License 8/2016- Present , New York State Licensure 8/2013-12/16 2. American Board of Pediatrics - Board certified, 11/14- Present 3. American Board of Pediatric Hematology Oncology – Board Certified , 06/2018- Present 4. Neonatal Advanced Life Support 06/2009-Present 5. Pediatric Advanced Life Support 06/2009-Present 6. ECFMG Certification 12/2007-Present ORAL PRESENTATIONS 1. Leukemia and Lymphoma Society of America C.M.E. Symposium presentation – Leukemia and Beyond: Advances in Cancer Care and Blood Disorders in the 21st Century, October 2019 2. Loma Linda University School of Medicine – Grand Rounds, Advances in the Management of Sickle Cell Disease, March 2019. 3. Loma Linda University School of Medicine – Experimental Therapeutics in Sickle Cell Disease – New Horizons at Loma Linda , November 2018 . 4. Adventist Health Ukiah , California - Neurological Defects of Iron Deficiency and Lead Poisoning in Humans , October 2017 5. Hofstra NorthWell School of Medicine - National Public Health Symposium on Global Public Health , Convener and Moderator ,April 2016 6. Cleveland Clinic Children’s Medical Center, Ohio – Non BCR-ABL Myeloproliferative syndromes of childhood, January 19, 2016. 7. Children’s Hospital at SMS Medical College ,India – Pediatric Hematology Oncology Emergencies for the Tropics, November 13, 2015 8. Harvard Medical School, Boston Children’s Hospital Division of Pediatric Hematology – Advances in Global Hematology, Annual Hemophilia Twining symposium, August 2, 2015. 9. New York Medical College as Grand Rounds, Division of Pediatrics – Emergencies in Pediatric Hematology and Oncology, April 2015. 10. Maurice A. Deane School of Law, Hofstra University, New York - Healthcare Access to Undocumented immigrants: Immigration reform and its impact, March 2015. 11. Pediatric Academic Society/Society of Pediatric Research (PAS/SPR) as platform presentation, Vancouver, BC - Global Child Health in Rich & Poor Countries Lessons Learned from Indigenous Health, May 3 2014. 12. Department of Medicine and Medical Oncology, as Guest International faculty , SMS Medical College, India - Advances in Stem Cell Transplantation – January 2014. 13. International health conference, Global Association of physicians of Indian Origin , New Jersey – Impact of Lead Intoxication in Low to middle income countries , August 2012. 14. 139st APHA Annual Meeting and Exposition 2011, Boston - Use of decision support in a Harlem pediatric emergency department to increase prescription of controller medicines to patients with poorly controlled asthma - Wilson Wang, Carolina Valez, Nicole Falanga, Vikas Bhambhani , Akshat Jain , Farhad Gazi, David Spiller, Paper no-227188 , November 2011 15. The New York Academy of Medicine, Resident award night - False negative result in newborn screening for Congenital Adrenal hyperplasia - July 2009.

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