Laboratorio de Nutrigenómica y Nutrigenética, Instituto Nacional de Medicina Genómica, Ciudad de, México, Mexico.
Instituto de Investigaciones Biomédicas, Universidad Nacional Autónoma de México, Ciudad de, México, Mexico.
Ann N Y Acad Sci. 2019 Aug;1450(1):32-46. doi: 10.1111/nyas.14200. Epub 2019 Aug 5.
Hemoglobin (Hb) concentration is the outcome of the interaction between genetic variation and environmental factors, including nutritional status, sex, age, and altitude. Genetic diversity influencing this protein is complex and varies widely across populations. Variants related to abnormal Hb or altered characteristics of the erythrocytes increase the risk for anemia. The most prevalent are related to the inherited globin abnormalities affecting Hb production and structure. Malaria-endemic regions harbor the highest frequencies of variants associated with the most frequent monogenic diseases and the risk for nonnutritional anemia and are considered as public health problems. Variation in genes encoding for enzymes and membrane proteins in red blood cells also influence erythrocyte life span and risk for anemia. Most of these variants are rare. Interindividual variability of hematological parameters is also influenced by common genetic variation across the whole genome. Some of the identified variants are associated with Hb production, erythropoiesis, and iron metabolism. Specialized databases have been developed to organize and update the large body of available information on genetic variation related to Hb variation, their frequency, geographical distribution, and clinical significance. Our present review analyzed the underlying genetic factors that affect Hb concentrations, their clinical relevance, and geographical distribution across populations.
血红蛋白（Hb）浓度是遗传变异和环境因素（包括营养状况、性别、年龄和海拔）相互作用的结果。影响这种蛋白质的遗传多样性复杂且在不同人群中差异很大。与异常 Hb 或红细胞特性改变相关的变异会增加贫血的风险。最常见的与影响 Hb 产生和结构的遗传性珠蛋白异常有关。疟疾流行地区携带有最高频率的与最常见的单基因疾病相关的变异，以及非营养性贫血的风险，这些地区被认为是公共卫生问题。编码红细胞酶和膜蛋白的基因变异也会影响红细胞寿命和贫血风险。这些变异大多数是罕见的。全基因组范围内常见的遗传变异也会影响血液学参数的个体间差异。已确定的一些变异与 Hb 产生、红细胞生成和铁代谢有关。专门的数据库已经开发出来，用于组织和更新与 Hb 变异相关的遗传变异、其频率、地理分布和临床意义的大量可用信息。我们目前的综述分析了影响 Hb 浓度的潜在遗传因素、它们的临床相关性以及在不同人群中的地理分布。
