重型β-地中海贫血的诊断与治疗进展

Journal: Basic Medical Theory Research DOI: 10.12238/bmtr.v4i4.5428

陈文强, 刘丽玲, 王春英, 江川

广西善医堂健康管理有限公司

Abstract

β-地中海贫血是常染色体隐性遗传性贫血,分为重型、中间型和轻型β-地中海贫血,其中重型β-地中海贫血对健康的危害最大。重型β-地中海贫血的婴儿出生后6-24个月内出现贫血,影响生长发育,伴有骨骼畸形、脾肿大等表现。β-地中海贫血的诊断主要是根据临床表现,血液学检查、血红蛋白分析及基因诊断(反向斑点杂交,荧光溶解曲线及基因测序)等。输血和去铁剂治疗是重型β-地中海贫血的主要治疗方法,在有适应症情况下可以使用脾切除术,骨髓移植是目前根治β-地中海贫血的唯一选择,其他治疗方法则有基因治疗、诱导胎儿血红蛋白合成以及调节红细胞生成等。

Keywords

β-地中海贫血;诊断;治疗

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