Cell Membrane. the Red Blood Cell as a Model

Contents......Page 5
Preface......Page 11
Foreword......Page 13
Acknowledgments......Page 15
1.1 Invention of Optical Microscopes and Their Application to Hematology......Page 17
1.2 Discovery of Hereditary Spherocytosis by Light Microscopy......Page 18
1.3 The Dawn of Red Cell Membrane Research......Page 20
1.4 Commencement of Membrane Protein Biochemistry......Page 23
1.5 Elucidation of the Pathogenesis of Red Cell Membrane Disorders......Page 27
1.6 Genotypes of Red Cell Membrane Disorders......Page 30
1.7 Reevaluation of Molecular Electron Microscopy for Phenotypes......Page 34
References......Page 37
2.1 Introduction......Page 42
2.2 Membrane Lipids......Page 43
2.3 Membrane Proteins......Page 50
References......Page 58
3.1 Historical Background to Membrane Models......Page 62
3.2 Ultrastructure of Red Cell Membranes......Page 64
References......Page 73
4 Skeletal Proteins......Page 75
4.1 a- and b-Spectrins......Page 76
4.2 Protein 4.1......Page 80
4.3 Actin......Page 85
4.4 Other Minor Skeletal Proteins......Page 86
References......Page 89
5.1 Band 3......Page 95
5.2 Glycophorins......Page 101
5.3 Blood Group Antigens......Page 106
5.4 Glycosyl Phoshatidylinositol (GPI) Anchor Proteins......Page 118
References......Page 121
6.1 Ankyrin......Page 128
6.2 Protein 4.2......Page 131
References......Page 142
7.1 Introduction......Page 146
7.2 Red Cell Membrane Proteins During Erythroid Development and Differentiation......Page 149
7.3 Sequential Expression of Erythroid Membrane Proteins, Particularly Protein 4.2......Page 158
References......Page 165
8.1 Introduction......Page 168
8.2 Number of 5’-CG-3’ Dinucleotide Sites and Their States of Methylation......Page 170
8.4 Methylation in EPB3, ELB42, and SPTB Promoters......Page 172
8.5 Methylation in the Disease States......Page 175
References......Page 176
9 Disease States of Red Cell Membranes: Their Genotypes and Phenotypes......Page 180
9.1 Incidence of Red Cell Membrane Disorders......Page 179
9.2 Incidence of Red Cell Membrane Disorders......Page 183
References......Page 185
10 Hereditary Spherocytosis (HS)......Page 188
10.1 Definition and History......Page 186
10.2 Clinical and Laboratory Findings......Page 187
10.3 Epidemiology and Genetics......Page 190
10.4 Pathogenesis: Affected Proteins and Their Related Gene Mutations......Page 192
10.5 Cellular Phenotypes: Spherocytosis and Membrane Transpo......Page 212
10.6 Role of the Spleen......Page 213
10.7 Complications......Page 215
10.8 Therapy and Prognosis......Page 217
References......Page 219
11.1 Definition and Epidemiology......Page 226
11.2 Clinical and Laboratory Findings......Page 228
11.3 Pathogenesis: Affected Proteins and Their Related Gene Mutations......Page 230
11.4 Hereditary Pyropoikilocytosis (HPP)......Page 240
11.5 Southeast Asian Ovalocytosis (SAO)......Page 242
References......Page 244
12.1 Introduction......Page 251
12.2 Hereditary Hydrocytosis......Page 253
12.3 Hereditary Xerocytosis......Page 255
12.4 Rhnull Disease......Page 257
References......Page 258
13.1 Introduction......Page 262
13.2 Abetalipoproteinemia......Page 263
13.3 Chorea-Acanthocytosis......Page 265
13.4 McLeod Syndrome......Page 266
13.5 Spur Cells and target Cells......Page 267
References......Page 269
14 Abnormalities of Skeletal Proteins......Page 272
14.1 a-Spectrin......Page 273
14.2 b-Spectrin......Page 280
14.3 Protein 4.1......Page 293
References......Page 306
15.1 Band 3......Page 308
15.2 Glycophorins......Page 332
15.3 Blood Group Antigens......Page 336
References......Page 339
16.1 Ankyrin......Page 344
16.2 Protein 4.2......Page 356
References......Page 384
17.1 Introduction......Page 390
17.2 Lecithin: Cholesterol Acyltransferase (LCAT) Deficiency......Page 393
17.3 b-Lipoprotein Deficiency (Acanthocytosis)......Page 403
17.4 Hereditary High Red Cell Membrane Phosphatidylcholine Hemolytic Anemia (HPCHA)......Page 408
17.5 a-Lipoprotein Deficiency (Tangier Disease)......Page 415
References......Page 421
18 Closing remarks......Page 426
Index......Page 428
List of Illustrations and Tables......Page 447