Hematologic Parameters Cut-off Assessment of Adult Alpha-Thalassemia Patients in Iran.

Bijan Keikhaei, Saeid Bitaraf, Ladan Mafakher, Hamid Galehdari, Amal Saki-Malehi, Mohammad Bahadoram
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Abstract

Background: Thalassemia is one of the most common blood disorders in Iran. Alpha-thalassemia is caused by the deletion of the alpha-globin gene. The frequency of deletions in the alpha-globin gene is associated with microcytosis and hypochromia, making hematological parameters valuable predictive tools in the initial identification of alpha-thalassemia patients. This study aimed to compare hematologic parameters such as Mean Corpuscular Volume (MCV), Mean Corpuscular Hemoglobin (MCH), red blood cell (RBC) count, and hemoglobin (HGB) levels in silent and minor patients, whose genotypes were genetically characterized, with normal patients to establish cut-off points for these groups. Materials and Methods: The study involved a total of 860 patients with alpha-thalassemia, including 267 cases of silent, 261 cases of minor, and 332 cases of normal alpha-thalassemia. Results: Analysis of blood indices based on sex revealed that the male group had higher values than the female group. Assessment of alpha-thalassemia in minor patients showed that the Cis form (-/αα) had higher microcytosis than the Trans form (-α/-α) in this group. This difference was also observed between α-3.7α/ α-3.7α and (αα)-MED/αα as two different genetic forms in minor patients, with (αα)-MED/αα being in the Cis form. Data indicated that the cut-off value was insignificant in silent patients compared to the normal group. However, minor patients with MCH≤23.7 and MCV≤74.9 had an AUC greater than 0.9 (p-value< 0.01), distinguishing them from the normal group. Conclusion: Comparing hematological parameters in these groups illustrated that MCV and MCH are the best predictor parameters for distinguishing between groups.

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伊朗成人α -地中海贫血患者血液学参数临界值评估。
背景:地中海贫血是伊朗最常见的血液疾病之一。地中海贫血是由α -珠蛋白基因缺失引起的。α -珠蛋白基因缺失的频率与小细胞增多和低色素血症有关,使血液学参数在α -地中海贫血患者的初步鉴定中有价值的预测工具。本研究旨在比较沉默和轻微患者的血液学参数,如平均红细胞体积(MCV),平均红细胞血红蛋白(MCH),红细胞(RBC)计数和血红蛋白(HGB)水平,其基因型具有遗传特征,与正常患者建立这些组的截止点。材料与方法:本研究共纳入860例α -地中海贫血患者,其中无症状型267例,轻度261例,正常型332例。结果:基于性别的血液指标分析显示,男性组高于女性组。对少数患者α -地中海贫血的评估显示,顺式(-/αα)比反式(-α/-α)有更高的小细胞增生。α-3.7α/ α-3.7α和(αα)-MED/αα作为两种不同的遗传形式在未成年患者中也存在差异,其中(αα)-MED/αα为Cis形式。数据显示,与正常组相比,沉默患者的临界值不显著。而MCH≤23.7、MCV≤74.9的未成年患者AUC大于0.9 (p值< 0.01),与正常组有明显区别。结论:比较各组血液学指标,MCV和MCH是区分两组的最佳预测指标。
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