Macrocytosis in patients with down syndrome with and without congenital heart disease. Does it mask iron deficiency in such patients?

ABSTRACT

Four groups were enrolled in this study Group I included 30 infants and children with isolated Down syndrome [DS], group II included 15 infants and children with DS and congenital heart disease [CHD], group III included 20 infants and children with different types of CHD and group IV comprised 15 clinically healthy infants and children. Full medical history taking, thorough clinical examination, CBC, assessment of RBCs indices, reticulocytic count, serum folate, serum vitamin B12, serum iron [SI], total iron binding capacity [TIBC], serum ferritin and transferrin% saturation calculation were done for all studied infants and children. Cardiac evaluation using X-ray chest and heart, ECG and echocardiography was done for patients in groups II and III. The current study confirmed the presence of significantly high prevalence of macrocytosis in children with DS with and without CHD, which is not associated with a deficiency of serum folate and/or vitamin B12, an observation that necessitates putting norms of RBCs indices for this special category of patients. Also, the study showed the inverse correlation between RBCs indices and markers of iron status in patients with isolated IDS, DS and CHD and isolated CHD that needs to be considered when investigating whether a child belonging to these groups is anemic and the cause of the anemia