Faculty of Associated Medical Sciences, Centre for Research and Development of Medical Diagnostic Laboratories, Khon Kaen University, Khon Kaen, Thailand.
Faculty of Medicine, Mahasarakham University, Mahasarakham, Thailand.
Int J Lab Hematol. 2021 Jun;43(3):500-505. doi: 10.1111/ijlh.13406. Epub 2020 Nov 27.
A high frequency of β-thalassemia in Lao People's Democratic Republic necessitates the importance of complete molecular data before a prevention and control program could be established. Limited data are available for Lao PDR. We have now reported an extended information on the molecular basis of β-hemoglobinopathies in this population.
The study was done on 519 unrelated Laos subjects requested for thalassemia investigation. Hematological data were recorded. Hb profiles were obtained using a capillary electrophoresis system. α-And β-globin genotyping was performed using PCR and related techniques.
Among the 519 subjects, 287 (55.3%) were found to carry β-hemoglobinopathies based on Hb and DNA analyses. These included Hb E carriers (n = 135), homozygous Hb E (n = 47), β-thalassemia carriers (n = 70), Hb E-β-thalassemia (n = 25), homozygous β-thalassemia (n = 4), heterozygous δβ -thalassemia (n = 2), and carriers of the β-Hb variant (n = 3). Mutation analysis identified in addition to the Hb E, 8 different β-thalassemia mutations including codon 17 (A-T), codons 41/42 (-TTCT), NT-28 (A-G), codons 71/72 (+A), IVS1-1 (G-T), 3.4 kb deletion, an initiation codon (T-G) and IVS2-654 (C-T). Two δβ -thalassemia carriers (12.6 kb deletion) and three subjects with Hb Hope (β ) were identified. Hematological features associated with these β-hemoglobinopathies were presented.
β-hemoglobinopathies in the Laos population is heterogeneous. This information is relevant for setting up a molecular diagnostics and can provide a basis for genetic counseling and enable prenatal diagnosis.
由于老挝人民民主共和国β-地中海贫血症的高发率，在建立预防和控制计划之前，必须要有完整的分子数据。老挝人民民主共和国的数据有限。我们现在报告了该人群中β-血红蛋白病分子基础的扩展信息。
该研究对 519 名要求进行地中海贫血症检查的非亲属老挝人进行了研究。记录了血液学数据。使用毛细管电泳系统获得 Hb 谱。使用 PCR 和相关技术进行α和β珠蛋白基因分型。
在 519 名受试者中，根据 Hb 和 DNA 分析，发现 287 名（55.3％）携带β-血红蛋白病。这些包括 Hb E 携带者（n=135），Hb E 纯合子（n=47），β-地中海贫血携带者（n=70），Hb E-β-地中海贫血（n=25），Hb 纯合子β-地中海贫血（n=4），杂合子δβ-地中海贫血（n=2）和β-血红蛋白变异体携带者（n=3）。突变分析除了发现 Hb E 以外，还鉴定出 8 种不同的β-地中海贫血突变，包括密码子 17（A-T），密码子 41/42（-TTCT），NT-28（A-G），密码子 71/72（+A），IVS1-1（G-T），3.4kb 缺失，起始密码子（T-G）和 IVS2-654（C-T）。鉴定出了 2 名δβ-地中海贫血携带者（12.6kb 缺失）和 3 名 Hb Hope（β）携带者。介绍了与这些β-血红蛋白病相关的血液学特征。
老挝人群中的β-血红蛋白病呈异质性。这些信息对于建立分子诊断具有重要意义，并为遗传咨询提供了基础，并能够进行产前诊断。
