División de Medicina Molecular, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, México.
División de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, México.
Genet Test Mol Biomarkers. 2021 Mar;25(3):247-252. doi: 10.1089/gtmb.2020.0276.
Alpha- and beta-thalassemia are caused by reduced or absent synthesis of hemoglobin (Hb) subunits α and/or β. , , and mutations are the main cause of thalassemias. The aim of this article is to analyze molecular and hematological features of α- and β-thal in a cohort of Mexican patients. One hundred forty-one thalassemia patients were studied. Peripheral blood was collected for blood cell count, electrophoresis, Hb quantification, and molecular testing. Molecular screening was performed by Gap-PCR, ARMS-PCR, Sanger sequencing, and MLPA. Fifty-four patients had α-thal, 75 β-thal, and 12 patients were complex cases, we observed 13 α- and 18 β-thal alleles in 43 genotypes, -α/αα and β/β were the most frequent. Four α-thal deletions (- included and , whereas (αα) involved MCS-R), a hereditary persistence of fetal hemoglobin-2 like (HPFH-2 like) deletion and six alleles not previously reported in Mexicans (αα, -α, αα, β, β and β) were identified. The observed alleles denote the high heterogeneity and multiple origin admixture of Mexican population. Hematological data are consistent with genotypes, variability in simple carriers, from asymptomatic forms to mild or moderate anemia, was ascertained. We emphasize the importance to consider hematological parameters to establish adequate molecular screening strategies.
α-和β-地中海贫血是由于血红蛋白（Hb）亚基α和/或β的合成减少或缺失引起的。、和 突变是导致地中海贫血的主要原因。本文的目的是分析一组墨西哥患者的α-和β-地中海贫血的分子和血液学特征。研究了 141 例地中海贫血患者。采集外周血进行血细胞计数、电泳、Hb 定量和分子检测。分子筛查采用 Gap-PCR、ARMS-PCR、Sanger 测序和 MLPA 进行。54 例患者为α-地中海贫血，75 例为β-地中海贫血，12 例为复杂病例，我们在 43 种基因型中观察到 13 种α-和 18 种β-地中海贫血等位基因，-α/αα和β/β最为常见。发现了 4 种α-地中海贫血缺失（-包括 和 ，而（αα）涉及 MCS-R），一种遗传性胎儿血红蛋白-2 样（HPFH-2 like）缺失和 6 种以前未在墨西哥人报道过的等位基因（αα、-α、αα、β、β和β）。观察到的等位基因表示墨西哥人群的高度异质性和多种起源混合。血液学数据与基因型一致，简单携带者的变异性从无症状形式到轻度或中度贫血，得到证实。我们强调考虑血液学参数以建立适当的分子筛查策略的重要性。
