The Correlation of β/α mRNA Ratio with Clinical and Hematological Parameters in Patients with β-thalassemia Syndrome

Background: Thalassemias are a group of genetically transmitted blood diseases characterized by defects in the production of α- or β-chains of hemoglobin called α-thalassemia and β-thalassemia, respectively. One of the common features of β-thalassemia is ineffective erythropoiesis because of the imbalance of globin chain production, which result in increased apoptosis during erythroblast maturation.
Objective: To evaluate the ß/α globin mRNA ratio in patients with ß-thalassemia syndrome and to correlate the ß/α ratio with hematological and clinical condition of the patients.
Methods: Thirty-five patient samples were collected from Thalassemia Centre of Ibn Al-Balady Hospital; 18 patients with β-thalassemia major and 17 patients with β-thalassemia intermedia. The patients were randomly selected regarding sex, whereas their age ranged from 3 to 17 years. Along with those samples, twenty control leftover samples that were the remaining of samples collected for laboratory investigation, were taken from Al-Kadhimiya Pediatric Hospital, and were age and sex matched with the patients group. The α and β globin chain ration were calculated by the real-time reverse transcription-polymerase chain reaction (qRT-PCR). The β/α -globin mRNA ratio of the samples was measured by the 2−ΔΔCT method.
Results: Analysis of the β-globin/α-globin mRNA ratio showed that disease severity increased with a reduction of the ratio. There was a highly significant difference in α level, ß level and ß/α ratio among studied groups with a p value of (p < 0.001). The highest level was in control group, followed by that in β-thalassemia intermedia and the lowest was in β-thalassemia major.
Conclusion: The severity of ß/α globin chain imbalance showed a significant and negative correlation with the mean corpuscular volume and there was no significant correlation between the ß/α ratio and markers of erythropoiesis in ß-thalassemia major and ß-thalassemia intermedia patients. The ß/α ratio was a good tool for diagnosis in ß-thalassemia major and ß-thalassemia intermedia as compared to control group with high sensitivity and specificity. A ß-chain gene expression was the lowest in ß-thalassemia major followed by ß-thalassemia intermedia as compared to control group.
Keywords: Thalassemia, ß/α -globin mRNA ratio
Citation: Yousif MH, Al-Mamoori HS. The Correlation of β/α mRNA Ratio with Clinical and Hematological Parameters in Patients with β-thalassemia Syndrome. Iraqi JMS. 2022; 20(1): 139-145. doi: 10.22578/IJMS.20.1.18