Progress in Medical Genetics: Volume 5 covers the improvements in nutrition and control of childhood disease. This book is divided into five chapters that evaluate the characteristics of thalassemias, an inherited defect in hemoglobin. It addresses the genetic control of hemoglobin synthesis and the clinical pictures and nomenclature of the different porphyrias. Some of the topics covered in the book are the genetic aspects of liver disease connected with jaundice; development of the concept of thalassemia as a hemoglobinopathy; bilirubin metabolism; description of hemolytic jaundice; description of hyperbilirubinemia. The succeeding chapters describe the disturbances in bilirubin uptake and conjugation, as well as the clinical diagnosis of familial non-hemolytic hyperbilirubinemias. An analysis of the Dubin-Johnson and Rotor syndrome is provided. The last chapters consider the genetics of muscular and the analysis of autosomal dominant forms of muscular dystrophy. The book can provide useful information to doctors, endocrinologists, students, and researchers.
Inhaltsverzeichnis
1;Front Cover ;1 2;Progress in Medical Genetics;4 3;Copyright Page;5 4;Table of Contents;6 5;Foreword;8 6;CHAPTER 1. Nature and Nurture;11 6.1;REFERENCES;16 7;CHAPTER 2. The Thalassemias;17 7.1;INTRODUCTION;17 7.2;GENETIC CONTROL OF HEMOGLOBIN SYNTHESIS;19 7.3;DEVELOPMENT OF THE CONCEPT OF THALASSEMIA AS A HEMOGLOBINOPATHY;26 7.4;CONDITIONS CLOSELY RELATED TO THE THALASSEMIAS;48 7.5;REFERENCES;58 8;CHAPTER 3. The Porphyrias: A Genetic Problem;67 8.1;NOMENCLATURE;67 8.2;BIOCHEMICAL PATTERNS IN THE PORPHYRIAS;70 8.3;PORPHYRIA ACUTA INTERMITTENS (PAI) OR PYRRHOLOPORPHYRIA HEREDITY;76 8.4;DIFFERENCES IN GEOGRAPHICAL INCIDENCE;80 8.5;PORPHYRIA VARIEGATA;87 8.6;PORPHYRIA CUTANEA TARDA;92 8.7;HEREDITARY COPROPORPHYRIA;95 8.8;PROTOPORPHYRIA ERYTHROPOIETICA;97 8.9;CONGENITAL PORPHYRIA;101 8.10;ANIMAL "PORPHYRIA";102 8.11;REFERENCES;107 9;CHAPTER 4. Genetic Aspects of Liver Disease Associated with Jaundice;111 9.1;BILIRUBIN METABOLISM;111 9.2;HEMOLYTIC JAUNDICE;112 9.3;SHUNT HYPERBILIRUBINEMIA;112 9.4;DISTURBANCES IN BILIRUBIN UPTAKE;113 9.5;DISTURBANCES OF BILIRUBIN CONJUGATION;113 9.6;FAMILIAL NONHEMOLYTIC HYPERBILIRUBINEMIAS;115 9.7;IDIOPATHIC RECURRENT CHOLESTASIS;116 9.8;THE BILIARY ATRESIAS;116 9.9;IDIOPATHIC CHOLESTATIC JAUNDICE OF PREGNANCY;117 9.10;HEPATOCELLULAR JAUNDICE;117 9.11;GIANT CELL HEPATITIS;118 9.12;GALACTOSEMIA;118 9.13;OTHER FORMS OF CIRRHOSIS;121 9.14;REFERENCES;121 10;CHAPTER 5. The Genetics of Muscular Dystrophy;125 10.1;Introduction;125 11;REFERENCES;146 12;Author Index;156 13;Subject Index;159
