![]() 7Īdditional factors influence the clinical manifestations of the disease, i.e., the same mutations may have different clinical manifestations in different patients. In this condition, patients can have from mild anemia to anemia requiring red blood cell transfusions, sometimes similar to beta-thalassemia major. 6 There is also the intermediate form of beta-thalassemia (beta-thalassemia intermedia), in which mutations of both beta genes occur (a mild mutation in one and a severe mutation in the other, or two mild mutations or a complex mutation that may be associated with alpha thalassemia). The intense imbalance of globin chain synthesis (alpha ≫ beta) results in ineffective erythropoiesis and severe hypochromic microcytic anemia. homozygous beta-thalassemia), the production of beta-globin chains is greatly impaired because both beta globin genes are mutated. 5 There is a decrease of approximately 50% in the synthesis of beta-globin protein in the heterozygous state, that is, beta-thalassemia minor or beta-thalassemia trait which causes mild to moderate microcytic anemia. β 0-thalassemia) or greatly reduced synthesis of beta-globin protein (i.e. The defect may be a complete lack of the beta-globin protein (i.e. 3, 4 It is inherited as an autosomal recessive disease however dominant mutations have also been reported. These point or, more rarely, deletion mutations cause improper synthesis of beta-globin, a component of hemoglobin, resulting in anemia. 1, 2īeta-thalassemia syndromes are a group of inherited disorders characterized by a genetic deficiency in the synthesis of beta globin chains.īeta-thalassemia affects one or both of the beta-globin genes (chromosome 11). The questions of these guidelines were structured using the Patient/Problem, Intervention, Comparison and Outcome (PICO) system, allowing the generation of evidence search strategies in the key scientific databases ( Annex I). Today, systematic reviews are considered the highest level of evidence for any clinical question as they systematically summarize information on a particular topic using a reproducible methodology to analyze primary studies (clinical trials, cohort, case–control or cross-sectional studies), as well as integrating information on efficiency, effectiveness and safety. Evidence-based medicine uses existing scientific evidence with good internal and external validity in the clinical practice. These guidelines use the technique of systematic review and information recovery based on the evidence-based medicine movement, in which clinical experience is integrated with the possibility to critically analyze and rationally apply scientific information thereby improving the quality of medical care. Description of the method used to gather evidence ![]()
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