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首页> 外文期刊>Sao Paulo Medical Journal >Hemoglobinopathies in newborns in the southern region of the Triangulo Mineiro, Brazil. Cross-sectional study
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Hemoglobinopathies in newborns in the southern region of the Triangulo Mineiro, Brazil. Cross-sectional study

机译：巴西Triangulo Mineiro南部地区新生儿的血红蛋白病。横断面研究

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ABSTRACT CONTEXT AND OBJECTIVE: Hemoglobinopathies are among the commonest and most widespread genetic disorders worldwide. Their prevalence varies according to ethnic composition and/or geographical region. The aim of this study was to investigate the presence of hemoglobinopathies and their association with ethnicity among 1,004 newborns, to confirm the guideline of the Brazilian National Neonatal Screening Program. DESIGN AND SETTING: Cross-sectional study conducted in a public referral hospital in the Triangulo Mineiro region, Minas Gerais, Brazil. METHODS: Qualitative assessment of hemoglobin was performed through electrophoresis on cellulose acetate: at alkaline pH to identify the hemoglobin (Hb) profile and at acid pH to differentiate Hb S from Hb D and Hb C from Hb E and others that migrate to similar positions at alkaline pH. Neutral pH was used to detect Hb Bart's identified in alpha thalassemia (α-thal). The elution method after electrophoresis was used to quantitatively assess hemoglobins. RESULTS: There was predominance of α-thal, with 105 cases (10.46%), followed by Hb S with 61 cases (6.08%, comprising 46 Hb AS, 2 Hb SS and 13 Hb S/α-thal), 9 cases (0.9%) of Hb AC and 6 cases (0.6%) suggestive of beta thalassemia (β-thal). The frequency of hemoglobinopathies was significantly higher among Afro-descendants. CONCLUSIONS: These findings corroborated of the National Neonatal Screening Program for diagnosing sickle cell disease and Hb C, Hb D, Hb E and β-thal hemoglobinopathies.
机译：摘要背景和目的：血红蛋白病是世界范围内最常见和最广泛的遗传病之一。它们的流行程度根据种族组成和/或地理区域而有所不同。这项研究的目的是调查1,004名新生儿中血红蛋白病的存在及其与种族的关系，以确认巴西国家新生儿筛查计划的指南。设计与环境：横断面研究在巴西米纳斯吉拉斯州Triangulo Mineiro地区的一家公立转诊医院进行。方法：通过在醋酸纤维素上进行电泳来对血红蛋白进行定性评估：在碱性pH下鉴定血红蛋白（Hb）谱，在酸性pH下区分Hb S和Hb D以及Hb E和Hb E以及其他迁移到相似位置的血红蛋白。碱性pH。中性pH用于检测在α地中海贫血（α-thal）中鉴定出的Hb Bart。电泳后的洗脱方法用于定量评估血红蛋白。结果：以α-thal为主，占105例（10.46％），其次是Hb S，占61例（6.08％，包括46 Hb AS，2 Hb SS和13 Hb S /α-thal），其中9例（ Hb AC占0.9％），提示β地中海贫血（β-thal）的6例（0.6％）。非洲裔后裔的血红蛋白病发病率明显更高。结论：这些发现证实了国家新生儿筛查计划的诊断镰状细胞疾病和Hb C，Hb D，Hb E和β-thal血红蛋白病。

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