地贫治疗进展：临床护理与并发症

Update on thalassemia: clinical care and complications.

机构信息

Le Bonheur Children's Medical Center, 777 Washington Avenue, Memphis, TN 38105, USA.

出版信息

Hematol Oncol Clin North Am. 2010 Feb;24(1):215-27. doi: 10.1016/j.hoc.2009.11.006.

DOI:10.1016/j.hoc.2009.11.006

PMID:20113904

Abstract

beta-Thalassemia, originally named Cooley anemia, is an inherited blood disease. Various types of thalassemia are inherited anemias caused by mutations at the globin gene loci on chromosomes 16 and 11, affecting the production of alpha- or beta-globin protein, respectively. The combination of early diagnosis, improvements in monitoring for organ complications, and advances in supportive care have enabled many patients who have severe thalassemia syndromes to live productive, active lives well into adulthood.

摘要

β-地中海贫血，原名 Cooley 贫血，是一种遗传性血液病。各种类型的地中海贫血都是由于 16 号和 11 号染色体上的珠蛋白基因座突变引起的遗传性贫血，分别影响α-或β-珠蛋白的产生。早期诊断、器官并发症监测的改进以及支持性护理的进步，使许多患有严重地中海贫血综合征的患者能够在成年后过上富有成效、积极的生活。