Contributions
Abstract: PB1811
Type: Publication Only
Session title: Thalassemias
Background
Beta-thalassemia (BT) is a genetic hematological disorder due to defect in beta globin gene, with extravascular hemolysis being a major feature of the disease. BT is the most common genetically inherited hemoglobin disorder in Egypt with a carrier rate reaching 10%. miRNA‑451, an erythroid cell‑specific miRNA, is upregulated during erythroid maturation, and could serve as a useful non‑invasive biomarker for various diseases.
Aims
To investigate whether plasma miRNA-451can be considered as a hemolytic marker.
Methods
This cross-sectional study was conducted on 29 patients with BT attending the Alexandria University Children’s Hospital Hematology outpatient clinic, Alexandria, Egypt. Patients were approached during their routine visits at the clinic and consecutively recruited if they accepted to participate and matched inclusion criteria, which were having BT (major or intermedia phenotype), being aged between 1 and 18 years, and having no known organ dysfunction (as renal or liver impairment). Ten age and sex-matched healthy chidlren were included as a control group provided they had a normal hemoglobin and RBCs indices for age. The BT patients were categorized as transfusion-dependent (TDT) if they had been receiving at least 8 packed red blood cells (PRBCs) transfusions per year, while patients receiving no or occasional transfusions were classified as non-transfusion dependent (NTDT). Complete blood counts, aspartate aminotransferase, total bilirubin, and lactate dehydrogenase where measured. Real-time quantitative PCR for miRNA was performed to detect the expression levels of miRNA-451. miRNA 134-2p was used as internal control. We compared the expression of miRNA-451 in the patients’ plasma of patients to that of healthy controls.
Results
Among the 29 included patients, 16 had NTDT (age ranged from 3.2 to 17.6 years) and 13 had TDT (age from 4.5 to 14.8 years) and ten controls aged 3 to 14 years old. Plasma miRNA 451 expression was higher among β‑thalassemia patients (median=0.7) when compared to controls (median=0.53) but not statistically significant, (p = 0.272). Similarly, there was an increased expression levels among TDT subgroup when compared to NTDT subgroup, (p = 0.288). The level of miRNA-451 was higher among severe cases than mild and moderate cases, (p = 0.301). There was also a higher miRNA-451 expression among splenectomized patients, (p = 0.10). In order to evaluate the diagnostic value of plasma miR‑451, the 2–∆∆Ct values of miRNA‑451 from the patients’ group were used to construct a ROC curve. Plasma miR‑451 did not confidently discriminate between normal controls and patients (AUC = 0.621; p = 0.26). In controls, the Hb, RBCs and platelet count were all significantly correlating with the plasma miR‑451 (p = 0.03, 0.008, 0.008, respectively). While in the patients’ group, among the hemolytic markers only the ALP was significantly correlating with the plasma miR‑451 (p = 0.007), as well as the BMI Z score among clinical parameters (p <0.001).
Conclusion
In order to investigate whether plasma miRNA-451can be considered as a hemolytic marker, we measured the expression of miRNA-451 in the plasma of Egyptian children with BT patients and compared it to healthy controls. miRNA-451 was more expressed in TDT patients compared to NTDT patients and controls, but this was not statistically significant. Plasma miR‑451 failed to discriminate between normal controls and patients.
Keyword(s): Children, Erythropoieisis, Hemolysis, Thalassemia
Abstract: PB1811
Type: Publication Only
Session title: Thalassemias
Background
Beta-thalassemia (BT) is a genetic hematological disorder due to defect in beta globin gene, with extravascular hemolysis being a major feature of the disease. BT is the most common genetically inherited hemoglobin disorder in Egypt with a carrier rate reaching 10%. miRNA‑451, an erythroid cell‑specific miRNA, is upregulated during erythroid maturation, and could serve as a useful non‑invasive biomarker for various diseases.
Aims
To investigate whether plasma miRNA-451can be considered as a hemolytic marker.
Methods
This cross-sectional study was conducted on 29 patients with BT attending the Alexandria University Children’s Hospital Hematology outpatient clinic, Alexandria, Egypt. Patients were approached during their routine visits at the clinic and consecutively recruited if they accepted to participate and matched inclusion criteria, which were having BT (major or intermedia phenotype), being aged between 1 and 18 years, and having no known organ dysfunction (as renal or liver impairment). Ten age and sex-matched healthy chidlren were included as a control group provided they had a normal hemoglobin and RBCs indices for age. The BT patients were categorized as transfusion-dependent (TDT) if they had been receiving at least 8 packed red blood cells (PRBCs) transfusions per year, while patients receiving no or occasional transfusions were classified as non-transfusion dependent (NTDT). Complete blood counts, aspartate aminotransferase, total bilirubin, and lactate dehydrogenase where measured. Real-time quantitative PCR for miRNA was performed to detect the expression levels of miRNA-451. miRNA 134-2p was used as internal control. We compared the expression of miRNA-451 in the patients’ plasma of patients to that of healthy controls.
Results
Among the 29 included patients, 16 had NTDT (age ranged from 3.2 to 17.6 years) and 13 had TDT (age from 4.5 to 14.8 years) and ten controls aged 3 to 14 years old. Plasma miRNA 451 expression was higher among β‑thalassemia patients (median=0.7) when compared to controls (median=0.53) but not statistically significant, (p = 0.272). Similarly, there was an increased expression levels among TDT subgroup when compared to NTDT subgroup, (p = 0.288). The level of miRNA-451 was higher among severe cases than mild and moderate cases, (p = 0.301). There was also a higher miRNA-451 expression among splenectomized patients, (p = 0.10). In order to evaluate the diagnostic value of plasma miR‑451, the 2–∆∆Ct values of miRNA‑451 from the patients’ group were used to construct a ROC curve. Plasma miR‑451 did not confidently discriminate between normal controls and patients (AUC = 0.621; p = 0.26). In controls, the Hb, RBCs and platelet count were all significantly correlating with the plasma miR‑451 (p = 0.03, 0.008, 0.008, respectively). While in the patients’ group, among the hemolytic markers only the ALP was significantly correlating with the plasma miR‑451 (p = 0.007), as well as the BMI Z score among clinical parameters (p <0.001).
Conclusion
In order to investigate whether plasma miRNA-451can be considered as a hemolytic marker, we measured the expression of miRNA-451 in the plasma of Egyptian children with BT patients and compared it to healthy controls. miRNA-451 was more expressed in TDT patients compared to NTDT patients and controls, but this was not statistically significant. Plasma miR‑451 failed to discriminate between normal controls and patients.
Keyword(s): Children, Erythropoieisis, Hemolysis, Thalassemia