Importance of early diagnosis of thalassemia and implications in its treatment: literature review

Ihann Lopes Campos Martins Diniz, Fabio Marques de Almeida, P. P. Ghazale, Murillo de Sousa Pinto
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Abstract

Thalassemia is a hereditary genetic disease that is characterized by changes in the conformation of hemoglobin. This pathology includes different types of blood changes that are characterized by lower levels or the absence of normal globin chains in hemoglobin. With the aim of contributing to the reduction of damage caused by thalassemia, the present study aims to promote awareness about the importance of early diagnosis of thalassemia, aiming to reduce health complications and improve patients' quality of life through medical interventions and support. adequate. To carry out this literature review on thalassemia, we will adopt an integrative analytical approach of searching and analyzing relevant studies. Initially, databases relevant to the area were selected, such as PubMed, Scopus, Web of Science. This study highlights the significance of early diagnosis of thalassemia as a crucial measure in the effective management of this genetic condition. Early identification not only allows for the implementation of appropriate medical interventions and treatments, but also helps reduce health complications and improve patients' quality of life.
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地中海贫血症早期诊断的重要性及其对治疗的影响:文献综述
地中海贫血症是一种以血红蛋白构象改变为特征的遗传性基因疾病。这种病理变化包括不同类型的血液变化,其特点是血红蛋白中正常的球蛋白链含量较低或缺失。为了减少地中海贫血症造成的损害,本研究旨在提高人们对早期诊断地中海贫血症重要性的认识,通过医疗干预和支持,减少健康并发症,提高患者的生活质量。为了进行本次地中海贫血症文献综述,我们将采用综合分析方法搜索和分析相关研究。首先,我们选择了与该领域相关的数据库,如 PubMed、Scopus 和 Web of Science。这项研究强调了早期诊断地中海贫血症的重要性,因为这是有效管理这种遗传病的关键措施。早期发现不仅可以实施适当的医疗干预和治疗,还有助于减少健康并发症,提高患者的生活质量。
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