Thalassaemia in Sri Lanka: implications for the future health burden of Asian populations
Thalassaemia in Sri Lanka: implications for the future health burden of Asian populations
复制标题
DOI：
10.1016/s0140-6736(99)08246-x
复制
发表时间：
2000-03-04
期刊：
影响因子：
168.9
通讯作者：
Weatherall, DJ
中科院分区：
文献类型：
--
作者：
de Silva, S;Fisher, CA;Weatherall, DJ
背景地中海贫血给印度次大陆和许多亚洲国家带来了日益严重的问题。我们分析了斯里兰卡人口中不同类型的地中海贫血，调查了学龄儿童的基因频率。方法分析9家医院门诊患者的血液样本，采用高效液相色谱（HPLC）和DNA分析确定β地中海贫血的不同类型。通过分析β-珠蛋白基因获得突变范围。从该岛不同地区的学童身上采集毛细血管血，用高效液相色谱法进行分析，以大致评估β地中海贫血和血红蛋白E（HbE）的携带频率。估计频率或地中海贫血的Cr-珠蛋白基因型进行了分析时，它是possible.Findings血液样本从703例β地中海贫血和1600名学童。地中海贫血突变分布不均。虽然发现了23种不同的β-地中海贫血突变，但约70%的患者中有3种占地中海贫血表型，其中大多数是IVS 1 -5（G->C）或IVS 1 -1（G->A）的纯合子或复合杂合子。第三种常见突变，即产生HbE的密码子26（G->A），与这些突变中的一种或另一种相互作用产生HbE/β地中海贫血;这占主要中心病例的13.0-30.9%。分析了472例患者的样本，以确定α-珠蛋白基因型。总的来说，15.5%的患者是α（+）地中海贫血缺失型携带者。平均基因频率显示，在未来的任何时候，将有超过2000名患者需要治疗，其中HbE/β地中海贫血患者将占约40%。解读在斯里兰卡，两种常见的β地中海贫血等位基因的相互作用几乎总是导致输血依赖性疾病。然而，约40%的患者将患有HbE/β地中海贫血，其具有可变的病程。这些疾病的管理可能需要卫生总预算的5%左右。如果要有效利用资源，我们需要更多地了解HbE/β地中海贫血的自然史和适当的管理。
Background Thalassaemias pose an increasing problem for the Indian subcontinent and many Asian countries. We analysed the different types of thalassaemia in the Sri Lankan population, surveyed gene frequencies in schoolchildren. and estimated the burden of disease and requirements for its control.Methods We analysed blood samples from patients attending clinics in nine hospitals and defined the different types of beta thalassaemia by high-performance liquid chromatography (HPLC) and DNA analysis. The range of mutations was obtained by analysis of beta-globin genes. Capillary blood was obtained from schoolchildren from different parts of the island and analysed by HPLC to provide an approximate assessment of the carrier frequency of beta thalassaemia and haemoglobin E (HbE). To estimate the frequency of or thalassaemia the cr-globin genotypes were also analysed when it was possible.Findings Blood samples were obtained from 703 patients with beta thalassaemia and from 1600 schoolchildren. The thalassaemia mutations were unevenly spread. Although 23 different beta-thalassaemia mutations were found, three accounted for the thalassaemia phenotype in about 70% of the patients, most whom are homozygotes or compound heterozygotes for IVS1-5 (G-->C) or IVS1-1 (G-->A). The third common mutation, codon 26 (G-->A), which produces HbE, interacts with one or other of these mutations to produce HbE/beta thalassaemia; this comprises 13.0-30.9% of cases in the main centres. Samples from 472 patients were analysed to determine the alpha-globin genotype. Overall, 15.5% patients were carriers for deletion forms of alpha(+) thalassaemia. Average gene frequencies showed that there will be more than 2000 patients requiring treatment at any one time, in the future, of whom those with HbE/beta thalassaemia will account for about 40%.Interpretation In Sri Lanka, interactions of the two common beta-thalassaemia alleles will nearly always result in a transfusion-dependent disorder. However, about 40% of patients will have HbE/beta thalassaemia, which has a variable course. The management of these disorders could require about 5% of the total health budget. We need to learn more about the natural history and appropriate management of HbE/beta thalassaemia if resources are to be used effectively.