Thalassemia major is the most severe form of the chronic familial anemias that result from the premature destruction of red blood cells and is inherited as an autosomal recessive trait. In the years since the Seventh Cooley's Anemia Symposium, held in 1997, major advances have taken place in the understanding and treatment of the disease.
The molecular mechanisms responsible for the switch from fetal hemoglobin to adult hemoglobin production have been further clarified, while new drugs to enhance the production of fetal hemoglobin and relieve the anemia of thalassemia have been introduced and studied. Understanding of the relationship between molecular genotype and clinical phenotype has been advanced, and the techniques for molecular diagnosis, including prenatal diagnosis, have been vastly improved. Most importantly, there have been dramatic improvements in the treatment and prevention of complications of thalassemia. As a result, patients are now living longer, albeit with more disability.
Problems such as osteoporosis, heart failure, growth hormone deficiency, pulmonary hypertension, and infertility can now be detected early and treated. This volume not only focuses on the advances over the last six or seven years, but also illuminates many unsolved but critically important issues in the understanding and treatment of thalassemia, thus offering the scientific, clinical, care-giving, and patient communities the most up-to-date exchange on the current and future perspectives of the disease.
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