中印度单一中心转诊患者中的血球蛋白病变:一项观察性研究
M P S S Singh1, Ravindra Kumar1, Purushottam Patel1
1ICMR-National Institute of Research in Tribal Health, Jabalpur, 482003 India.
Indian journal of clinical biochemistry : IJCB
|January 21, 2025
概括
状细胞病 (SCD) 和血病在印度中部很常见. 这项研究对13,587名患者进行了查,在12%的患者中发现了SCD,在0.6%的患者中发现了 homozygous beta-thalassemia,这凸显了广泛查的必要性.
科学领域:
- 血液学 血液学 血液学
- 医学遗传学 医学遗传学
- 公共卫生 公共卫生
背景情况:
- 状细胞病 (SCD) 和血病是印度中部普遍存在的遗传性血液疾病.
- 早期识别对于管理严重表现和了解疾病负担至关重要.
- 血球蛋白病变在该地区构成了重大公共卫生挑战.
研究的目的:
- 为了研究贫血患者中血红蛋白病变的谱系,转介到印度中部的一个中心.
- 为了确定不同血红蛋白病变的患病率,包括SCD和血病.
- 确定与特定血红蛋白病变的人口和部落关联.
主要方法:
- 在2012年1月至2020年8月期间,对13,587名被转诊诊断的个人进行了查.
- 使用血红蛋白电泳或高性能液态染色学 (HPLC) 来识别血红蛋白病变.
- 对罕见或未知的变体进行分子表征.
主要成果:
- 在12%的患者中发现了状细胞病 (SCD);在0.6%的患者中发现 homozygous beta-thalassemia.
- 在74个个体中发现了胎儿血红蛋白 (HPFH) 或三角形β-thalassemia的遗传性持续性.
- 超过50%的转诊SCD患者年龄超过12岁,普拉丹,冈德和拜加部落的患病率更高.
结论:
- 印度中部血红蛋白病发病率高,需要在风险社区进行大规模查.
- 针对性的查计划对于预防和早期干预策略至关重要.
- 了解这些疾病的部落分布有助于公共卫生规划.
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