地中海贫血
医学
β地中海贫血
重症监护医学
遗传诊断
心理干预
血红蛋白E
输血
BETA(编程语言)
人口
儿科
内科学
计算机科学
遗传学
环境卫生
生物
精神科
基因
程序设计语言
作者
Morgan Pines,Sujit Sheth
标识
DOI:10.1016/j.hoc.2022.12.003
摘要
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.
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