血液溶解性贫血的一个特殊病例的特征和临床评估
Fulvio Castelgrande1,2, Gemma Viola3,2, Cinzia Calabrese1,2
1School of Laboratory Medicine and Pathology, University of Rome Tor Vergata, Via Cracovia, 00133 Rome, Italy.
Journal of hematology
|July 12, 2024
概括
在一个患有严重贫血的病人身上诊断出β-thalassemia intermediate,但异常的血液参数导致重新分类为依赖输血的thalassemia (TDT). 这凸显了β-thalassemia中基因型-表型相关性的复杂性.
科学领域:
- 血液学 血液学 血液学
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
背景情况:
- β-thalassemia是一种遗传性血液疾病,涉及减少或不存在的全球蛋白链合成,导致贫血.
- 基因分类 (β0/β0,β0/β+,β+/β+) 和临床分类 (依赖输血的人与不依赖输血的人).
- 流行率已经从地中海转移到全球分布.
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