Interplay of anemia in inborn errors of energy metabolism

Inborn errors of energy metabolism (IEEM) are inherited conditions that typically present with impaired mitochondrial energy production and multisystem involvement, leading to adverse developmental outcomes. Iron is essential for mitochondrial function, and its deficiency may influence disease manifestations. The study aimed to evaluate the frequency of anemia and assess red blood cell indices, including the Mentzer Index (MI), in children with IEEM. This prospective observational study analyzed RBC indices in children (0-3 years) with clinically detected IEEM. Anemia was defined as per WHO criteria: hemoglobin < 11 g/dL (6-59 months). The MI was calculated and compared with age-matched controls. Anemia was observed in both the IEEM and control groups, with no significant difference between the two. Among individuals with IEEM, 78.3% had an MI ≥ 13, compared with 88.5% of controls; the difference was not statistically significant. Network analysis of complete blood count parameters demonstrated distinct clustering patterns in the IEEM group compared to controls. Although the proportion of lymphocytes and absolute lymphocyte counts were higher in the IEEM group, these differences were not statistically significant. Anemia was prevalent in both groups, with no significant difference observed between IEEM and controls. Network analysis demonstrated variations in hematological patterns; however, these findings are exploratory and do not establish underlying mechanisms. They may reflect complex interactions between metabolic and hematological factors. CTRI Number: CTRI/2023/11/060330.