Progress in Medical Genetics e-bog

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.