Division of Pediatric Hematology/Oncology, Department of Pediatrics, Weill Cornell Medicine, P-695, 525 East 68th Street, New York, NY 10065, USA; Department of Pediatrics, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, H1117A, New York, NY 10065, USA.
Division of Pediatric Hematology/Oncology, Department of Pediatrics, Weill Cornell Medicine, P-695, 525 East 68th Street, New York, NY 10065, USA.
Hematol Oncol Clin North Am. 2023 Apr;37(2):313-325. doi: 10.1016/j.hoc.2022.12.003.
This article reviews the classification of beta-thalassemia syndromes, correlating clinical severity and genotype in the earlier classification, and broadening it recently based on clinical severity and transfusion status. The classification is dynamic, and individuals may progress from transfusion-independent to transfusion-dependent. Early and accurate diagnosis prevents delays in instituting treatment and comprehensive care, and precludes inappropriate and potentially harmful interventions. Screening can inform risk in an individual and subsequent generations when partners may be carriers as well. This article discusses the rationale for screening of the at-risk population. In the developed world, a more precise genetic diagnosis must be considered.
本文回顾了β-地中海贫血综合征的分类，早期分类将临床严重程度和基因型相关联，而最近则根据临床严重程度和输血状态进行了扩展。该分类是动态的，个体可能从无需输血状态进展为依赖输血状态。早期和准确的诊断可避免治疗和综合护理的延迟，并防止不适当和潜在有害的干预。筛查可告知个体及其有携带风险的伴侣后代的风险。本文讨论了对高危人群进行筛查的基本原理。在发达国家，必须考虑更精确的基因诊断。
