Department of Pediatrics, Children Hematological Oncology and Birth Defects Laboratory, the Affiliated Hospital of Southwest Medical University, Luzhou, Sichuan 646000, China; Department of Pediatrics, Southwest Medical University, Luzhou, Sichuan 646000, China.
Department of Pediatrics, Children Hematological Oncology and Birth Defects Laboratory, the Affiliated Hospital of Southwest Medical University, Luzhou, Sichuan 646000, China; Department of Pediatrics, Southwest Medical University, Luzhou, Sichuan 646000, China; Sichuan Clinical Research Center for Birth Defects, Luzhou, Sichuan 646000, China.
Clin Chim Acta. 2022 Sep 1;534:176-184. doi: 10.1016/j.cca.2022.08.001. Epub 2022 Aug 3.
Thalassaemia is a common hereditary haemolytic anaemia. Mild cases of this disease may be asymptomatic, while patients with severe thalassaemias require high-dose blood transfusions and regular iron removal to maintain life or haematopoietic stem cell transplantation to be cured, imposing an enormous familial and social burden. Therefore, early, timely, and accurate screening of patients is of great importance. In recent years, with the continuous development of thalassaemia screening technologies, the accuracy of thalassaemia screening has also improved significantly. This article reviews the current research on thalassaemia screening.
地中海贫血是一种常见的遗传性溶血性贫血。该病轻度病例可能无症状，而严重地中海贫血患者则需要大剂量输血和定期除铁以维持生命，或进行造血干细胞移植以治愈，这给家庭和社会带来了巨大负担。因此，早期、及时、准确地对患者进行筛查非常重要。近年来，随着地中海贫血筛查技术的不断发展，地中海贫血筛查的准确性也有了显著提高。本文就地中海贫血筛查的研究现状进行综述。
