"" Medical and Surgical Management of Patients with Thalassemia""

Includes index.

""Preface""; ""Contents""; ""Chapter 1: Clinical Features of β-Thalassemia and Sickle Cell Disease""; "" Introduction""; "" Hemoglobin: Structure and Function""; "" Types of Hemoglobin""; "" Classifying the Hemoglobin Disorders""; "" β-Thalassemia""; "" Overview and Historical Perspective""; "" Epidemiology and Global Burden""; "" Molecular Basis and Pathophysiology""; "" Iron and β-Thalassemia""; "" Classification and Clinical Manifestations of Î-Thalassemia""; "" β-Thalassemia Major""; "" Hematological Manifestations""; "" Skeletal Manifestations""

"" Dominantly Inherited β-Thalassemia"""" Unusual Causes of β-Thalassemia""; "" Genetics of Sickle Cell Disease""; "" Genetic Modifiers of β-Hemoglobinopathies""; "" Update on the Genetic Control of Fetal Hemoglobin (HbF)""; "" Genetic Modifiers of Sickle Cell Disease""; "" Impact of HbF in SCD""; "" Impact of α-Thalassemia on SCD Phenotype""; "" Secondary Modifiers of Sub-phenotypes and Complications""; "" Genetic Modifiers of β-Thalassemia""; "" Effect of the Primary Modifiers: HbF Quantitative Trait Loci and α-Globin Genotype""

"" Endocrine Manifestations"""" Hepatic Manifestations""; "" Cardiac Manifestations""; "" β-Thalassemia Intermedia""; "" β-Thalassemia Minor""; "" Sickle Cell Disease""; "" Overview and Historical Perspective""; "" Epidemiology and Global Burden""; "" Molecular Basis and Pathophysiology""; "" Classification of Sickle Cell Disease""; "" Clinical Manifestations of Sickle Cell Disease""; "" Hematologic Manifestations""; "" Vaso-Occlusive Manifestations""; "" Infectious Manifestations""; "" Neurological Manifestations""; "" Cardiac Manifestations""; "" Pulmonary Manifestations""

"" Secondary Modifiers of Complications of β-Thalassemia""""References""; ""Chapter 3: Current Standards of Care and Long Term Outcomes for Thalassemia and Sickle Cell Disease""; "" Introduction""; "" Thalassemia""; "" Molecular Basis and Classification""; "" Clinical Presentation""; "" Diagnosis""; "" Preventive Care and Screening Measures (Table 3.3)""; "" Growth and Development""; "" Endocrine Studies""; "" Iron Monitoring""; "" Cardiac Studies""; "" Infection""; "" Bone Mineral Density""; "" Ophthalmologic and Auditory Screening""

"" Splenic Manifestations"""" Hepatobiliary Manifestations""; "" Renal Complications""; "" Skeletal Complications""; "" Other Complications""; "" Sickle Cell Disease Treatment Options""; "" Summary""; ""References""; ""Chapter 2: Genetic Basis and Genetic Modifiers of β-Thalassemia and Sickle Cell Disease""; "" Introduction""; "" The β-Globin Gene (HBB) and Normal Expression""; "" Genetics of β-Thalassemia""; "" Non-deletion β-Thalassemia""; "" Transcriptional Mutations""; "" Mutations Affecting RNA Processing""; "" Translational Mutations""; "" Deletions Causing β-Thalassemia""

This book provides a comprehensive review of gene and cell therapy approaches for hemoglobinopathies. It covers the progress and current state of the field in hematopoietic stem cell transplantation for hemoglobinopathies and genetic correction of autologous hematopoietic stem cells. Chapters focus on such topics as the current standards of care and long term outcomes of b-thalassemias and sickle cell disease, the ability to generate autologous embryonic stem cell-like cells from primary somatic cells, and genetic strategies to reactivate fetal hemoglobin production. In addition to offering a thorough review of the field in its present state, this book also sheds light on the major changes expected in coming years.   Gene and Cell Therapies for Beta-Globinopathies is part of the American Society of Gene and Cell Therapy sub-series of the highly successful Advances in Experimental Medicine and Biology series. It is essential reading for graduate students, clinicians, and researchers interested in gene and cell therapy.

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