Cobián José Gaudencio, Sánchez-López Josefina Yoaly, Magaña María Teresa, Chávez María Luz, Perea Francisco Javier, Ibarra Bertha
División de Genética, Centro de Investigación Biomédica de Occidente, IMSS.
Rev Invest Clin. 2009 Sep-Oct;61(5):399-404.
Hemoglobin disorders are classified into three main groups: structural variants, thalassemias (thal) and hereditary persistence of fetal hemoglobin (HPFH). OBJECTIVE. This study describes the types and frequencies of hemoglobinopathies from four states of the Pacific coast of Mexico (Jalisco, Colima, Nayarit and Michoacan). MATERIAL AND METHODS. We studied 1513 Mexican individuals by hematological and biochemical analysis following the conventional methods, DNA analysis was carried out in abnormal samples. RESULTS. The frequency of hemoglobinopathies was 1.258%. Structural variants were the most common type (0.726%), with seven carriers (0.462%) and one homozygote (0.066%) for Hb S, and three heterozygotes of the following hemoglobins: C (beta6 Glu-->Lys), Fannin-Lubbock I (beta119 Gly-->Asp) and Colima (beta49 Ser-->Cys), with a frequency of 0.066% each. We observed a frequency of 0.466% for the thalassemia group, with one homozygote for the alpha3.7 (-thal) allele (0.066%), and 6 heterozygotes for beta-thal (0.40%), with the allele IVS1:110 G-->A in three subjects, and the alleles Cd 39, IVS1:5 G-->A and -28 A-->C in the three other. HPFH was detected in one subject (0.066%). Jalisco and Colima had the highest frequencies of hemoglobinopathies, 3.015% and 1.331% respectively, and the latter showed the most diversity of hemoglobin disorders.
The observed heterogeneity of types and frequencies of hemoglobinopathies in the regions studied illustrate the importance of further investigation of these abnormalities in Mexico.
血红蛋白病主要分为三大类:结构变异型、地中海贫血(地贫)和胎儿血红蛋白遗传性持续存在(HPFH)。目的:本研究描述了墨西哥太平洋沿岸四个州(哈利斯科州、科利马州、纳亚里特州和米却肯州)血红蛋白病的类型和频率。材料与方法:我们采用常规方法对1513名墨西哥个体进行了血液学和生化分析,对异常样本进行了DNA分析。结果:血红蛋白病的频率为1.258%。结构变异型是最常见的类型(0.726%),其中Hb S携带者7例(0.462%),纯合子1例(0.066%),以及以下三种血红蛋白的杂合子各3例:C(β6谷氨酸→赖氨酸)、范宁 - 卢伯克I(β119甘氨酸→天冬氨酸)和科利马(β49丝氨酸→半胱氨酸),频率均为0.066%。我们观察到地贫组的频率为0.466%,其中α3.7(-地贫)等位基因纯合子1例(0.066%),β-地贫杂合子6例(0.40%),3例携带IVS1:110 G→A等位基因,另外3例携带Cd 39、IVS1:5 G→A和-28 A→C等位基因。在1名受试者中检测到HPFH(0.066%)。哈利斯科州和科利马州的血红蛋白病频率最高,分别为3.015%和1.331%,后者显示出血红蛋白病的种类最多样化。
在所研究地区观察到的血红蛋白病类型和频率的异质性说明了在墨西哥进一步研究这些异常情况的重要性。