中年妇女患有血细胞形: 戈萨综合征: 病例报告
Diviya Bharathi Ravikumar1, Barath Prashanth Sivasubramanian2, Shreya Thungala1
1Department of Internal Medicine, ESIC MC and PGIMSR, Chennai, Tamil Nadu, India.
Radiology case reports
|September 2, 2024
概括
腔血管形症 (GHDD) 是一种罕见的遗传疾病,导致骨密度问题和贫血. 用阿司匹林治疗显著改善了诊断患者的血红蛋白水平.
科学领域:
- 遗传学和血液学:专注于罕见的遗传性骨疾病及其对血液细胞形成的影响.
背景情况:
- 腔血液二形发育不良症 (GHDD) 是一种与TBXAS1基因中的双变异相关的自体衰退性疾病,影响血栓素合成酶.
- 长骨介质的骨密度增加和血液形成受损的特征.
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