Haemochromatosis

The book is intended for physicians especially in postgraduate training. It provides modern and comprehensive information on this relatively common disease. The book will be appreciated by specialists dealing with iron metabolism disorders and liver diseases (i.e. hepatologists, haematologists, internists, clinical geneticists, metabolic disease specialists and others).
Genetic or hereditary haemochromatosis (GH) is probably the most common monogenically transmitted congenital disease in populations of European origin. Since the discovery of the so-called. The gene for haemochromatosis in 1996 led to an explosion of knowledge not only about this disease, but about iron metabolism and its regulation in general. This book summarizes the current knowledge on iron metabolism, genetic abnormalities leading to iron accumulation, their diagnosis and treatment. The first part describes the function and metabolism of iron, including its distribution to individual organs and transport into cells. In the next chapter, the causes of iron accumulation in the body are analysed, divided into two basic groups - genetically determined and secondary. The third chapter deals with the organ consequences of iron accumulation. In the next chapter the epidemiology of genetic haemochromatosis is described, in chapter 5 its clinical manifestations are described. Chapter 6 deals with the diagnosis of GH from laboratory changes to histological findings and the role of molecules
biological methods. Other chapters deal with screening and treatment of GH, the last two chapters are devoted to changes in iron metabolism in hepatic and extrahepatic diseases. In the contribution of prof. L. The consequences of iron deficiency are also described. A list of relevant literature is provided at the end.