Human Hemoglobin Genetics
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 geneti...
| Main Authors: | , |
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| Format: | eBook |
| Language: | English |
| Published: |
Vienna
Springer Vienna
1986, 1986
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| Edition: | 1st ed. 1986 |
| Subjects: | |
| Online Access: | |
| Collection: | Springer Book Archives -2004 - Collection details see MPG.ReNa |
Table of Contents:
- 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
- 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
- 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