Anemia in Patients with Phenylketonuria in Yazd

Background Phenyl ketonuria (PKU) is a congenital metabolic disease. Irreversible brain damage is the result of phenyl alanin accumulation, so its amount should be restricted in patients diet. In their diet, trace elements such as hem Iron, folic acid, vitamin B12 and, etc are also limited, and could represent anemia. In this study, the frequency of anemia in PKU patients in Yazd was investigated and compare with non-affected individuals. Materials and Methods In this case-control study, all the PKU patients of Yazd who were under diet at least for 6 months were selected. The controls were selected from non PKU population and matched with cases according to age, gender and socioeconomic level. Hematologic factors were measured in both groups and analyzed using SPSS software using T-Test. Results This study consisted of 18 patients aged between 1 to 18 years old. Full blood count and blood indices did not show significant difference (p > 0.05), except MCHC (p < 0.05). The blood level of vitamin B12 and Folic acid were significantly higher in the cases than controls (p < 0.05), but ferritin was not significantly different between them (P > 0.05). Conclusion Our results did not show significant difference in presentation of anemia in patients with PKU and normal controls. Screening for anemia among PKU patients and taking supplements is recommended.