G. R. Honig, J. G. Adams

Human Hemoglobin Genetics (eBook, PDF)

• Format: PDF

Produktbeschreibung

The discovery in the late 1940's that sickle cell anemia is a "molecular disease" of hemoglobin was the crucial advance that gave birth to the scientific discipline of human molecular genetics. In subsequent years, with the continued expansion of knowledge about the biology and genetics of the hemoglobins, and particularly as a result of the characterization of the very large numbers of globin gene mutations, the human hemoglobin system has remained as the premier model of gene expression at the molecular level in man. With the recent explosion of new information about the genetic properties of the hemoglobins, it appears inevitable that this gene system will continue to occupy a unique position in human molecular genetics for many years in the future. Hemoglobin genetics has also recently come of age as a diagnostic and clinical discipline. The heightening of public awareness in recent years about sickle cell disease, thalassemia, and other inherited disorders has brought increasing demands for carrier detection services as well as for genetic counseling and education. The more recent development of prac tical and reliable methods for the antenatal diagnosis of hemoglobin dis orders has further increased the scope of clinical hemoglobin genetics, and it can be anticipated that these potent diagnostic techniques will have increasing application in the years ahead.

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Produktdetails

• Verlag: Springer Vienna
• Seitenzahl: 452
• Erscheinungstermin: 6. Dezember 2012
• Englisch
• ISBN-13: 9783709187982
• Artikelnr.: 53396887

Inhaltsangabe

1. Introduction.- A. The Hemoglobins in Human Biology and Genetics - An Overview.- B. Historical Foundations of Human Hemoglobin Genetics.- 2. The Human Hemoglobins.- A. Hemoglobin Structure and Function.- B. The Normal Human Hemoglobins and Their Globin Subunits.- 3. The Human Globin Genes.- A. DNA Structure and Function.- B. Recent Methodologie Advances in the Study of Genes and Their Structure.- C. Globin Gene Localization and Organization.- D. The Structure of the Globin Genes.- E. The Evolution of the Globin Genes.- 4. Hemoglobin Synthesis and Globin Gene Expression.- A. Hemoglobin Synthesis and Its Regulation.- B. Regulation of the Expression of the Normal Globin Genes.- 5. The Globin Gene Mutations - A. Mechanisms and Classification.- A. Mechanisms of Globin Gene Mutation.- B. Classification of the Globin Gene Mutations.- 6. The Globin Gene Mutations - B. Their Phenotypes and Clinical Expression.- A. Sickle Cell Disease.- B. Intracellular Hemoglobin Crystallization: Hb C.- C. Erythrocytosis: Abnormal Hemoglobins with Increased Oxygen Affinity.- D. Congenital Cyanosis.- E. Hemolytic Anemia ("Congenital Heinz-Body Anemia"): The Unstable Hemoglobins.- F. The Thalassemias.- G. The Syndromes of Hereditary Persistence of Fetal Hemoglobin.- H. Precocious Synthesis of Adult Hemoglobin.- 7. The Genetics of the Human Globin Gene Loci: Formal Genetics and Gene Linkage.- A. The Formal Genetics of the Human Hemoglobin System.- B. New Globin-Gene Mutations.- C. Aequired (Non-genetic) Thalassemias.- D. Linkage Relationships Involving Polymorphic Sites in the Regions of the Globin Genes.- 8. The Geographic Distribution of Globin Gene Variation.- A. Distribution of the Hemoglobin Variants and Thalassemias.- B. The Malaria Hypothesis.- C. Molecular Approaches to theStudy of Genetic Diversity of the Globin Gene Alleles.- 9. Laboratory Identification, Screening, Education, and Counseling for Abnormal Hemoglobins and Thalassemias.- A. The Laboratory Identifieation of Abnormal Hemoglobins and Thalassemias.- B. Screening for Abnormal Hemoglobins and Thalassemias.- C. Antenatal Diagnosis.- 10. Approaches to the Treatment of the Hemoglobin Disorders.- A. Current Forms of Treatment for Patients with Hemoglobin Disorders.- B. New Directions in Therapy.- Table A-1. The ?-Globin Gene Mutations.- Table A-2. The ?-Globin Gene Mutations.- Table A-3. The ?-Globin Gene Mutations.- Table A-6. The Fusion Gene Mutations.- References.