单个中心的经验是四个患有耐铁缺铁性贫血病 (IRIDA) 的病例
Gülin Parlak1, Muhammed Doğukan Aksu2,3, Fatma Gümrük4
1Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Türkiye.
The Turkish journal of pediatrics
|November 25, 2024
概括
耐铁性缺铁性贫血 (IRIDA) 是一种罕见的遗传疾病. 在TMPRSS6的遗传突变导致IRIDA,导致贫血不响应口服铁疗法.
科学领域:
- 血液学 血液学 血液学
- 遗传学 是一个遗传学.
- 罕见疾病 罕见疾病
背景情况:
- 耐铁性缺铁性贫血 (IRIDA) 是一种罕见的自体逆向性疾病.
- 它的特点是对口服铁的不反应和对腹腔铁治疗的部分反应.
- TMPRSS6基因突变与IRIDA的病原发生有关.
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