Genetics of Hematological Disorders

摘要: Part 1 Introduction: morbid anatomy of the human genome in relation to hematological disorders - role gene mapping hematology. 2 Thalassemias: cis- and trans-acting elements that participate development B-globin locus hemoglobinopathies erythrocyte enzymopathies populations USSR. 3 Enzymopathies red cell: glucose 6-phosphate dehydrogenase deficiency an update. 4 Hemophilia: carrier detection hemophilia A. 5 Leukemias: balanced familial (2 8) translocation a young girl with ph-positive chronic myelogenous leukemia heterochromatin polymorphism patients malignant diseases cytogenetic backup diagnosing monitoring leukemia. 6 Hematological manifestations: Bloom's syndrome incidence, age onset, types registry cytogenetics 21st century.