THE SIGNIFICANCE OF NEXT-GENERATION SEQUENCING IN NON-IMMUNE HEMOLYTIC ANEMIAS AMONG NORMOCHROMIC-NORMOCYTIC ANEMIAS

Abstract

Objective: Next-generation sequencing studies increased the exact diagnosis of unexplained normochromic-normocytic anemias and other anemias. Targeted next-generation sequencing studies allow the diagnosis of cytoskeleton defects, atypical cases, and some enzyme deficiencies. We aimed to compare the children with non-immune hemolytic anemia (n=13), and the others without non-immune hemolytic anemia (n=19) in the means of demographics, diagnosis, detected mutations, and laboratories. Methodology: In this study, the children who were examined in the Pediatric Hematology-Oncology Clinic of Duzce University School of Medicine and had unexplained anemia (n=29) underwent next-generation studies. The demographics, laboratory values, and genetic findings of two groups (non-immun hemolytic anemia and the others) were compared. We also found two novel mutations, one with hereditary spherocytosis and one with hereditary elliptocytosis. Mean, standard deviation, median minimum, maximum, frequency and ratio values were used in descriptive statistics of the data. The distribution of variables was measured with the Kolmogorov-Simirnov test. Independent sample t test and mann-whitney u test were used to analyze quantitative independent data. The chi-square test was used to analyze qualitative independent data. SPSS 28. 0 program was used in the analysisResults Conclusion: The demographics and the laboratory results are explained in Table 1. Comparing the non-immune hemolytic anemia patients (n=13) with the others (n=19), we found that membrane disorders rates, identified mutations associated with anemia, mean cell volume, mean cell hemoglobin, thrombocyte, reticulocyte, and absolute reticulocyte levels were higher, hemoglobin and erythrocyte levels were lower in the non-immun lower in the non-immune hemolytic anemia group (Table 2). The novel mutations are shown