Human Hemoglobin GeneticsThe 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. |
Contents
The Human Hemoglobins | 19 |
B The Normal Human Hemoglobins and Their Globin Sub | 29 |
Globin Gene Localization and Organization | 48 |
E The Evolution of the Globin Genes | 66 |
Hemoglobin Synthesis and Globin Gene Expression 73 | 72 |
B Regulation of the Expression of the Normal Globin | 97 |
The Globin Gene Mutations A Mechanisms | 115 |
B Classification of the Globin Gene Mutations | 124 |
G The Syndromes of Hereditary Persistence of Fetal Hemo | 209 |
B New GlobinGene Mutations | 224 |
The Geographic Distribution | 237 |
Molecular Approaches to the Study of Genetic Diversity | 245 |
Screening to Determine the Variety and Frequency | 261 |
Antenatal Diagnosis | 267 |
Approaches to the Treatment | 277 |
Appendix | 289 |
i aGlobin Gene Deletions | 143 |
vi PolyadenylationTranscriptionTermination | 157 |
The Globin Gene Mutations B Their Phenotypes | 162 |
Heterozygous Hb S Sickle Cell Trait | 172 |
Congenital Cyanosis | 181 |
F The Thalassemias | 191 |
Table A2 The BGlobin Gene Mutations | 308 |
Table A3 The 8Globin Gene Mutations | 342 |
Table A6 The Fusion Gene Mutations | 348 |
| 436 | |
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Common terms and phrases
A₂ abnormal hemoglobin Acad Acta adult Afro Ala Ala allele amino acid B-chain Biochim Biol Biophys blood bone marrow chromosome Clegg Clin clinical cloned codon deletion deoxy Electrophoretic enzyme erythrocy erythrocytes erythroid erythroid cells European XR expression fetal hemoglobin genetic globin chains globin gene Haemat haplotype Hb F Hb SS hematologic heme hemo hemoglobin variant hemolytic anemia homozygous HPFH Huisman human hemoglobin hybrid identified individuals introns Japanese XR Kazazian Lehmann Leu Leu levels of Hb linkage molecular molecule mRNA Natl nucleotide Orkin patients phenotype polymorphic polypeptide polypeptide chain Proc protein recombination region restriction enzyme reticulocytes semia sequence shown sickle cell anemia sickle cell disease single base splice ẞ chains ẞ-globin Stamatoyannopoulos studies subunits syndromes thalas thalassemia trait transcription Val Val Weatherall XR hemolytic anemia XR normal