Keikhaei Bijan, Bitaraf Saeid, Mafakher Ladan, Galehdari Hamid, Saki-Malehi Amal, Bahadoram Mohammad
Thalassemia & Hemoglobinopathy Research Center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
Department of Community Medicine, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
Int J Hematol Oncol Stem Cell Res. 2024 Oct 1;18(4):323-329. doi: 10.18502/ijhoscr.v18i4.16757.
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. 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. 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 αα/ αα and (αα)/αα as two different genetic forms in minor patients, with (αα)/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. Comparing hematological parameters in these groups illustrated that MCV and MCH are the best predictor parameters for distinguishing between groups.
地中海贫血是伊朗最常见的血液疾病之一。α地中海贫血由α珠蛋白基因缺失引起。α珠蛋白基因缺失的频率与小红细胞症和低色素血症相关，这使得血液学参数成为初步识别α地中海贫血患者的有价值的预测工具。本研究旨在比较基因型已明确的静止型和轻型患者与正常患者的血液学参数，如平均红细胞体积（MCV）、平均红细胞血红蛋白含量（MCH）、红细胞（RBC）计数和血红蛋白（HGB）水平，以确定这些组别的临界值。该研究共纳入860例α地中海贫血患者，包括267例静止型、261例轻型和332例正常α地中海贫血患者。基于性别的血液指标分析显示，男性组的值高于女性组。对轻型患者的α地中海贫血评估表明，该组中顺式形式（-/αα）的小红细胞症高于反式形式（-α/-α）。在轻型患者中，作为两种不同遗传形式的αα/αα和（αα）/αα之间也观察到这种差异，其中（αα）/αα为顺式形式。数据表明，与正常组相比，静止型患者的临界值无显著意义。然而，MCH≤23.7且MCV≤74.9的轻型患者的曲线下面积大于0.9（p值<0.01），可将他们与正常组区分开来。比较这些组的血液学参数表明，MCV和MCH是区分各组的最佳预测参数。
