Tabla de Contenidos:
  • Front Cover; The Molecular Basic of Mutant Hemoglobin Dysfunction; Copyright Page; Table of Contents; Dedication; Preface; Chapter 1. Plenary Address: Molecular Disease; Sickle Cell Anemia-An Amino Acid Substitution; Alleles; Protein Conformation at the Sickle Cell Mutation; Red Cell Membrane in Sickle Cell Anemia; Sickle Cell Anemia and Population Genetics: Balanced Polymorphisms; Hemoglobin C; The Genetic Code; Types of Mutations in the Abnormal Hemoglobins; Switch Back to Fetal Hemoglobin; Unequal Crossing-Over: Hemoglobin Lepore; Globin Gene Structure.
  • Molecular Biology and the Treatmentof the HemoglobinopathiesReferences; SECTION I: Some Clinical Problems Stated for the Molecular Biologist; Chapter 2. The Influence of Fetal Hemoglobin on the Risk of Complications of Sickle Cell Anemia; Introduction; Materials and Methods; Results; Discussion; References; Chapter 3. Ocular Manifestations of Sickle Cell Disease; Conjunctival Findings; Retinal Changes in Sickle Disease; Vascular Tortuosity; Macular Remodeling; Proliferative Sickle Retinopathy (PSR) Peripheral Retinal Remodeling ; Arteriolar-Venular Anastomosis (Stage II) (see Table 1).
  • Proliferative Sickle Retinopathy (PSR) (Stage III) (see Table 2)Vitreous Hemorrhage (Stage IV); Pathogenesis; Summary; References; SECTION II: Expression of Normal and Abnormal Genes; Chapter 4. Introductory Remarks: Human Globin Gene Expression; References; Chapter 5. Organization of Normal and Abnormal Human Globin Genes by Restriction Enzyme Analysis; Experimental Procedures; Results; Prenatal Diagnosis of the a Thalassemias; The Prenatal Diagnosis of Sickle Cell Anemia; Acknowledgments; References.
  • Chapter 6. The a-Globin Genotype as a Determinant of Hematologie Parameters in Sickle Cell Trait1Introduction; Methods; Results; Discussion; References; Chapter 7. Characterization of Linked Human Globin Genes by Molecular Cloning Procedures; Acknowledgments; References; Chapter 8. Regulation of Human Globin Gene Expression after Gene Transfer; Gene Transfer by Somatic Cell Hybridization; Possible Regulatory Mechanisms for Globin Gene Expression; Possible Post-transcriptional Control of Globin Synthesis; Gene Transfer by Physical Microinjection; References.
  • Chapter 9. The Introduction of Normal and Mutant Globin Genes into Mammalian Cells Using SV40 VectorsIntroduction; Expression of a Complete Globin Gene; A Deleted Giobin Gene; Possibility of Studying Thalassemic Genes; Acknowledgments; References; SECTION III: Structure Analysis of Mutant Hemoglobins and Their Aggregates; Chapter 10. Introductory Remarks: Structural Analysis of Mutant Hemoglobins and Their Aggregates; References; Chapter 11. Flexibility of the NH2-Terminal Region of the � Chains of Hemoglobin: Correlation with the Gelation Properties of Deoxyhemoglobin S; Introduction.