亚马逊献血者α -地中海贫血等位基因缺失。

Q3 Medicine Advances in Hematology Pub Date : 2020-04-14 eCollection Date: 2020-01-01 DOI:10.1155/2020/4170259
Fernanda Cozendey Anselmo, Natália Santos Ferreira, Adolfo José da Mota, Marilda de Souza Gonçalves, Sérgio Roberto Lopes Albuquerque, Nelson Abrahim Fraiji, Ana Carla Dantas Ferreira, José Pereira de Moura Neto
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In this study, the subjects were screened for -<i>α</i> <sup>3.7/4.2</sup>/<sup>20.5</sup>, -<sup>SEA,</sup> -<sup>FIL</sup>, and -<sup>MED</sup> deletions. Alpha-thalassemia screening was carried out between 2016 and 2017 among 714 (72.1%) male and 275 (27.9%) female donors. The aims of this analysis were to describe the distribution of various alpha-thalassemia alleles by gender, along with their genotypic interactions, and to illustrate the hematological changes associated with each phenotype. Amongst the patients, 5.35% (<i>n</i> = 53) were diagnosed with deletion -<i>α</i> <sup>-3.7</sup> and only one donor with <i>α</i> <sup>-4.2</sup> deletion. From the individuals with -<i>α</i> <sup>-3.7</sup>, 85.8% (<i>n</i> = 46) were heterozygous and 14.20% (<i>n</i> = 7) were homozygous. The frequency of the -<i>α</i> <sup>-3.7</sup> deletion was higher in male (5.89%) than in female (4.0%). 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引用次数: 4

摘要

α -地中海贫血在巴西多元社会中非常普遍,是一个公共卫生问题。人们对它在亚马逊地区的准确频率和分布的了解有限。因此,了解地中海贫血的频率和负责突变的流行程度是了解和控制规划的重要一步。从亚马逊血液治疗和血液学基金会(fhemam)收集989名无血缘关系的首次献血者的血液学和分子数据,以及血清铁和血清铁蛋白。在本研究中,筛选受试者的-α 3.7/4.2/20.5, -SEA, -FIL和-MED缺失。在2016年至2017年期间,对714名(72.1%)男性和275名(27.9%)女性献血者进行了α -地中海贫血筛查。本分析的目的是描述不同性别的α -地中海贫血等位基因的分布,以及它们的基因型相互作用,并说明与每种表型相关的血液学变化。其中5.35% (n = 53)的患者被诊断为缺失-α -3.7,只有1例供体被诊断为缺失α -4.2。-α -3.7的杂合子占85.8% (n = 46),纯合子占14.20% (n = 7)。男性-α -3.7基因缺失率(5.89%)高于女性(4.0%)。-α -3.7的性别分布差异无统计学意义(p = 0.217)。未发现-α 20.5、-SEA和-MED缺失。分析了所有受试者的血清铁和血清铁蛋白,其中1.04%的人缺铁(n = 5),没有人的铁储存水平很高(>220µg/dL)。α-地中海贫血-23.7kb缺失是在玛纳斯献血者中检测到的最常见的等位基因,这是一个一致的结果,它曾经是世界上发现的最常见的α-地中海贫血类型。正如预期的那样,α -地中海贫血携带者血液学数据的平均值显著降低(p < 0.001),主要是纯合子基因型。白细胞和血小板计数无显著差异。由于在献血者中发现的缺铁个体数量较少,即使在缺铁和α-地中海贫血的血液学参数中发现微小的变化,也无法对两种类型的贫血进行鉴别诊断。尽管如此,该研究显示缺铁供者的血液学参数值,特别是MCV和MCH值较低,特别是与α-地中海贫血相关的供者,因此,它可能有助于区分不同类型的小细胞贫血。总之,我们认为地中海贫血特征筛查应作为献血前标准血液检测的一部分。值得注意的是,这是第一个对来自玛瑙斯地区的献血者进行α缺失筛查的研究,需要进一步的研究来观察捐献的地中海贫血血的影响。
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Deletional Alpha-Thalassemia Alleles in Amazon Blood Donors.

Alpha-thalassemia is highly prevalent in the plural society of Brazil and is a public health problem. There is limited knowledge on its accurate frequency and distribution in the Amazon region. Knowing the frequency of thalassemia and the prevalence of responsible mutations is, therefore, an important step in the understanding and control program. Hematological and molecular data, in addition to serum iron and serum ferritin, from 989 unrelated first-time blood donors from Amazonas Hemotherapy and Hematology Foundation (FHEMOAM) were collected. In this study, the subjects were screened for -α 3.7/4.2/20.5, -SEA, -FIL, and -MED deletions. Alpha-thalassemia screening was carried out between 2016 and 2017 among 714 (72.1%) male and 275 (27.9%) female donors. The aims of this analysis were to describe the distribution of various alpha-thalassemia alleles by gender, along with their genotypic interactions, and to illustrate the hematological changes associated with each phenotype. Amongst the patients, 5.35% (n = 53) were diagnosed with deletion -α -3.7 and only one donor with α -4.2 deletion. From the individuals with -α -3.7, 85.8% (n = 46) were heterozygous and 14.20% (n = 7) were homozygous. The frequency of the -α -3.7 deletion was higher in male (5.89%) than in female (4.0%). There is no significant difference in the distribution of -α -3.7 by gender (p = 0.217). The -α 20.5, -SEA, and -MED deletions were not found. All subjects were analyzed for serum iron and serum ferritin, with 1.04% being iron deficient (n = 5) and none with very high levels of stored iron (>220 µg/dL). Alpha-thalassemia-23.7kb deletion was the most common allele detected in Manaus blood donors, which is a consistent result, once it is the most common type of α-thalassemia found throughout the world. As expected, the mean of hematological data was significantly lower in alpha-thalassemia carriers (p < 0.001), mainly homozygous genotype. Leukocytes and platelet count did not differ significantly. Due to the small number of individuals with iron deficiency found among blood donors, the differential diagnosis between the two types of anemia was not possible, even because minor changes were found among hematological parameters with iron deficiency and α-thalassemia. Despite this, the study showed the values of hematological parameters, especially MCV and MCH, are lower in donors with iron deficiency, especially when associated with α-thalassemia, and therefore, it may be useful to discriminate different types of microcytic anaemia. In conclusion, we believed screening for thalassemia trait should be included as part of a standard blood testing before blood donation. It should be noted that this was the first study to perform the screening for alpha deletions in blood donors from the Manaus region, and further studies are required to look at the effects of donated thalassemic blood.

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来源期刊
Advances in Hematology
Advances in Hematology Medicine-Hematology
CiteScore
3.30
自引率
0.00%
发文量
10
审稿时长
15 weeks
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