Current status of thalassemia in minority populations in Guangxi, China
Current status of thalassemia in minority populations in Guangxi, China
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DOI：
10.1111/j.1399-0004.2007.00791.x
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发表时间：
2007-05-01
影响因子：
3.5
通讯作者：
Huang, T.
中科院分区：
文献类型：
--
作者：
Pan, H. F.;Long, G. F.;Huang, T.
地中海贫血是世界上最常见的单基因疾病之一。为了制定一个以社区为基础的预防计划，我们在中国广西百色市对12,900名α-和β-地中海贫血患者进行了筛查，采用血液学方法和分子检测。我们发现该地区α地中海贫血携带者的频率为15%。β地中海贫血携带者占人口的4.8%。五种突变占α-地中海贫血的98%[--SEA 46.7%; -α/4.2，23.9%; -α/3.7，21.7%;血红蛋白（Hb）恒定弹簧，6.5%; Hb Quong Sze，1.1%]。β-珠蛋白基因中的7个突变占突变的99%[密码子（CD）41/42（-TCTT）（39.4%），CD 17（A -> T）（32%），CD 71/72（+A）（7.4%）、-28（A -> G）（5.8%）、IVS-2-654（C -> T）（5.8%）、CD 26（Hb E）（4%）、IVS-1（G -> A）（3.7%）和CD 43（G -> T）（1.9%）]。大多数患有α-地中海贫血的个体在子宫内或出生后不久死亡。在我们诊所随访的106例重型β地中海贫血患者中，大多数在5岁之前死亡。开展了有关地中海贫血的知识调查。我们的研究结果表明，严重缺乏有关地中海贫血的知识，在医疗专业人员和一般人群。本研究表明，地中海贫血是一个非常严重的公共卫生问题，在少数民族人群在百色市，中国。鉴定常见的突变将使我们能够设计具有成本效益的分子测试。迫切需要教育普通民众和医学界，以成功地实施以社区为基础的预防方案。
Thalassemia is one of the most common monogenic disorders in the world. In order to develop a community-based prevention program, we screened 12,900 individuals for alpha- and beta-thalassemia in Baise City, Guangxi, China, with hematological methods and molecular assays. We found that the frequency of carriers in this area for alpha-thalassemia is 15%. beta-thalassemia carriers comprise 4.8% of the populations. Five mutations account for 98% of alpha-thalassemia [--SEA 46.7%; -alpha/4.2, 23.9%; -alpha/3.7, 21.7%; hemoglobin (Hb) Constant Spring, 6.5%; Hb Quong Sze, 1.1%]. Seven mutations in the beta-globin gene account for 99% of the mutations [codon (CD) 41/42 (-TCTT) (39.4%), CD 17(A -> T) (32%), CD 71/72 (+A) (7.4%), -28 (A -> G) (5.8%), IVS-2-654 (C -> T) (5.8%), CD26 (Hb E) (4%), IVS-1 (G -> A) (3.7%), and CD 43(G -> T) (1.9%)]. Most individuals with alpha-thalassemia major die in the uterus or shortly after birth. Among 106 patients with beta-thalassemia major followed by our clinic, the majority died before 5 years of age. Knowledge surveys about thalassemia were conducted. Our results show a severe lack of knowledge about thalassemia in both medical professionals and in the general populations. This study shows that thalassemia is a very severe public health issue in minority populations in Baise City, China. Identification of the common mutations will allow us to design cost-effective molecular tests. There is an urgent need to educate the general population and the medical community for a successful community-based prevention program.