中国医药指南

目的 对红河州地区地中海贫血患者基因结果进行分析与研究。方法 纳入2022年10月至2025年7月红河哈尼族彝族自治州妇幼保健院513例红河州地区地中海贫血患者为研究对象，提取DNA后进行PCR扩增，获取地中海贫血阳性的基因类型和检测结果。结果 红河州地区513例地中海贫血中α型地中海贫血占比65.30%,β型地中海贫血占比32.16%、混合型地中海贫血占比2.54%。335例α型地中海贫血居民缺失基因型中，以SEA东南亚型基因杂合缺失占比最大，达到53.73%，其次为3.7基因杂合缺失，占比33.13%。165例β型地中海贫血居民中41-42M杂合子突变点位占比最大，达到29.09%，其次为βEM杂合子，占比为23.03%。基因缺失型、突变点位以汉族为主，其次为彝族，傣族SEA东南亚型基因杂合缺失较高，达到12.78%，壮族、傣族1-42M杂合子占比达到12.50%、10.42%，哈尼族βEM杂合子占比较高，达到23.68%。结论 使用基因检测有助于疾病的筛查，发现不同民族的基因突变或缺失类型，安排更具针对性的干预方法。

Objective To analyze and study the genetic profiles of thalassemia patients in Honghe prefecture. Methods A total of 513 thalassemia patients from October 2022 to July 2025 at the Maternal and Child Health Hospital of Honghe Prefecture. DNA was extracted and subjected to PCR amplification to identify the gene types and test results of thalassemia positivity. Results In Honghe prefecture, 513 cases of thalassemia were identiffed with α-thalassemia accounting for 65.30%, β-thalassemia 32.16%, and mixed thalassemia 2.54%. Among the 335 residents with α-thalassemia, SEA(Southeast Asian) type gene heterozygous deletions were the most prevalent at 53.73%, followed by 3.7 gene heterozygous deletions at 33.13%. The 165 β-thalassemia cases, 41-42M heterozygous mutations were the most common at 29.09%, followed by βEM heterozygous mutations at 23.03%. Genetic deletions and mutation sites were predominantly observed in Han Chinese, with Yi and Dai ethnic groups showing secondary prevalence. Dai ethnic groups exhibited higher SEA type gene heterozygous deletions at 12.78%, while Zhuang and Dai ethnic groups had 12.50% and 10.42% respectively for 1-42M heterozygous mutations. Hani ethnic groups showed the highest proportion of βEM heterozygous mutations at 23.68%. Conclusions Genetic testing facilitates disease screening and identiffcation of mutation/deletion patterns in different ethnic groups, enabling targeted intervention strategies with signiffcant clinical value.