血红蛋白H疾病和生长:对DHbH和NDHbH患者进行比较研究
Issanun Hunnuan1, Kleebsabai Sanpkit1, Ornsuda Lertbannaphong2
1Division of Hematology and Oncology, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Mediterranean journal of hematology and infectious diseases
|September 14, 2023
概括
非删除型血红蛋白H (NDHbH) 疾病与降低血红蛋白水平和增加缩症有关. 在NDHbH中,生长失败更为常见,需要对受影响儿童进行密切监测和潜在的早期干预.
科学领域:
- 血液学 血液学 血液学
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
背景情况:
- 血红蛋白H (HbH) 疾病是一种由异常的阿尔法环球蛋白基因引起的血红蛋白病,呈缺失性 (DHbH) 或非缺失性 (NDHbH) 形式.
- 阿尔法突变基因型导致不同的临床贫血,这些贫血不同影响患者的生长.
研究的目的:
- 评估和比较血红蛋白H疾病患者的生长模式.
- 为了确定与HbH患者生长衰竭相关的因素.
主要方法:
- 在2005年1月至2021年4月期间诊断的145名HbH患者的回顾性分析.
- 利用泰国儿科内分泌学会的生长标准和世卫组织的BMI-for-age Z分数.
- 定义成长失败为年龄的身高超过两个标准偏差低于平均值.
主要成果:
- 非删除性HbH (NDHbH) 在51.7%的患者中存在,其中----SEA/αCSα是最常见的基因型.
- 与DHbH相比,NDHbH患者的血红蛋白水平显著降低 (8.16g/dL vs. 9.51g/dL),壮病 (37.3%) 和生长衰竭 (22.7%) 的患病率更高.
- 大于3厘米的瘤显著与生长失败相关 (OR = 4.28).
结论:
- NDHbH与较低的血红蛋白水平和更明显的脊髓巨变有关.
- 增长失败在NDHbH患者中更为普遍,尽管它可以发生在两种类型中.
- 密切监测生长速度和早期干预对于管理HbH生长衰竭至关重要.
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