海南省育龄黎族和汉族人口地中海贫血症患病率。

IF 2 4区 医学 Q3 HEMATOLOGY Hematology Pub Date : 2024-12-01 Epub Date: 2024-10-21 DOI:10.1080/16078454.2024.2417524
Fangchao Tao, Yanquan Lai, Jiaqi Chen, Shijie Wei, Yu Zou, Yunli Lai, Qiongzhen Qin, Yufeng Wang, Wanjun Zhou
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引用次数: 0

摘要

目标:准确的流行病学数据对于有效的疾病预防和治疗至关重要。我们开展了一项大规模调查,以探究地中海贫血在海南省两个主要民族中的患病率和谱系:方法:我们从海南省 18 个市县招募了 399 053 名黎族(n = 77 563)和汉族(n = 321 490)育龄人群,对他们的地中海贫血基因型进行了系统筛查和统计分析:研究发现,黎族的地中海贫血基因携带率(55.39%)明显高于汉族(13.13%)。具体而言,黎族的α-地中海贫血携带率为 46.39%,汉族为 10.02%。黎族主要的α-地中海贫血突变是-α3.7和-α42.,而汉族主要的突变是-SEA和-α4.2。至于β-地中海贫血,黎族的携带率为 1.68%,汉族为 2.38%,CD41-42(-CTT)是两组中最普遍的突变。β-/α-复合地贫携带率在黎族为 7.32%,在汉族为 0.73%。此外,地中海贫血在海南省黎族和汉族中的分布存在地区差异:本研究揭示了海南黎族和汉族地中海贫血的流行病学特征和分子谱。这些发现可为制定和实施海南省地中海贫血症预防策略提供科学依据。
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Prevalence of thalassaemia among childbearing-age Li and Han populations in Hainan Province.

Objectives: Accurate epidemiological data are crucial for effective disease prevention and treatment. We conducted a large-scale survey to explore the thalassaemia prevalence and spectrum among the two major ethnic groups in Hainan Province.

Methods: A total of 399,053 childbearing-age individuals of Li (n = 77,563) and Han(n = 321,490) ethnic groups were recruited from 18 cities and counties in Hainan, and their thalassemia genotypes were systematically screened and statistically analysed.

Results: This study revealed a significantly higher thalassaemia carrier rate in the Li (55.39%) than that in the Han (13.13%). Specifically, the carrier rate of α-thalassaemia was 46.39% in the Li and 10.02% in the Han. The predominant α-thalassaemia mutations were - α3.7 and - α42. in Li, whereas the main mutation were - SEA and - α4.2 in Han. For β-thalassaemia, the carrier rates were 1.68% in Li and 2.38% in Han, with CD41-42(-CTTT) the most prevalent mutation in both groups. The carrier rates of β-/α-compound thalassaemia were 7.32% in Li and 0.73% in Han. Additionally, there were regional differences in the distribution of thalassemia among the Li and Han within Hainan Province.

Conclusion: Epidemiological characteristics and molecular spectrum of thalassaemia among the Li and Han ethnic groups in Hainan were revealed in this study. These findings can provide a scientific basis to develop and implement prevention strategies for thalassaemia in Hainan.

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来源期刊
Hematology
Hematology 医学-血液学
CiteScore
2.60
自引率
5.30%
发文量
140
审稿时长
3 months
期刊介绍: Hematology is an international journal publishing original and review articles in the field of general hematology, including oncology, pathology, biology, clinical research and epidemiology. Of the fixed sections, annotations are accepted on any general or scientific field: technical annotations covering current laboratory practice in general hematology, blood transfusion and clinical trials, and current clinical practice reviews the consensus driven areas of care and management.
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