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The 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.
Completely revised new edition of the definitive reference on disorders of hemoglobin.
Disorders of Hemoglobin stands tall as the definitive work on the genetics, pathophysiology, and clinical management of hemoglobinopathies and thalassemia. Drs. Steinberg, Forget, Higgs, and Nagel have gathered the world authorities on the science and clinical management of these disorders and created the authoritative textbook for researchers and clinicians alike.Authors describe the scientific basis of clinical features and provide clinicians with a clear background of disorders they treat and scientists with an essential link between their research and its clinical manifestation. Disorders of Hemoglobin is the only single-source reference on hemoglobinopathies for hematologists, pediatricians, clinical investigators, and geneticists worldwide.
Research on abnormal human hemoglobins (protein in blood that carries oxygen), has taught us about the inheritance, biochemistry, and distribution of these traits. This knowledge, coupled with mathematical research using computer models of population genetics, has enabled researchers to marry biological fact and genetic theory. This volume places medical understanding in an evolutionary framework. Using published data on the frequencies of abnormal hemoglobins in the world's populations, Livingston analyzes and interprets these frequencies in the light of world distribution of different forms of diseases such as malaria. He further develops the genetic theory of the evolutionary homeostasis. Livingston discusses the relation of abnormal hemoglobins to endemic malaria and, shows how natural selection pressures explain the known distribution of these traits. Where non-coinciding distributions arise, the book presents other genetic, anthropological, evolutionary, and epidemiological evidence to explain these discrepancies. This classic work remains a useful sourcebook for professors and graduate students of anthropology, genetics, epidemiology, and hematology.
This book focuses on respiratory proteins, the broad hemoglobin family, as well as the molluscan and arachnid hemocyanins (and their multifunctional roles). Featuring 20 chapters addressing invertebrate and vertebrate respiratory proteins, lipoproteins and other body fluid proteins, and drawing on the editors’ extensive research in the field, it is a valuable addition to the Subcellular Biochemistry book series. The book covers a wide range of topics, including lipoprotein structure and lipid transport; diverse annelid, crustacean and insect defense proteins; and insect and vertebrate immune complexes. It also discusses a number of other proteins, such as the hemerythrins; serum albumin; serum amyloid A; von Willebrand factor and its interaction with factor VIII; and C-reactive protein. Given its scope, the book appeals to biologists, biomedical scientists and clinicians, as well as advanced undergraduates and postgraduates in these disciplines. Available as a printed book and also as an e-book and e-chapters, the fascinating material included is easily accessible.
Preceded by Genomics and clinical medicine / edited by Dhavendra Kumar. [First edition]. 2008.
In the new edition of this successful and authoritative book, the thalassaemias are reviewed in detail with respect to their clinical features, cellular pathology, molecular genetics, prevention and treatment. It is aimed at specialists in haematology in the laboratory or clinical setting, particularly in areas where thalassaemia is common either in the native population or in immigrant communities. The fourth edition has been both updated and re-organized. Three new chapters have been added on the link between alpha-thalassaemia and mental retardation, on avoidance and population control and on global epidemiology. Considerable emphasis is placed on molecular pathology reflecting the huge burst of information to have come out of this field in the last few years.