Genetic Counseling Program

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A Pilot study screen for prevalence of iron deficiency in child with Down syndrome.  By Melissa Alderdice


Introduction:  This study assessed prevalence of iron deficiency (ID) and iron deficient anemia (IDA) in a population of children with Down syndrome and attempted to determine if there are differences in the red blood indices when compared with children with Down syndrome who do not have ID or IDA. Currently, evaluation for ID and IDA involves evaluating the size of an individual’s red blood cells. Since individuals with Down syndrome tend to have larger red blood cells, the diagnosis of ID or IDA may be obscured.  Methods:  In this study, patients with Down syndrome were recruited for a one time blood draw and laboratory testing to look at several blood measurements including a CBC with manual differential, red blood cell indices, TIBC (total iron binding capacity), FEP (free erythrocyte protoporphyrin), serum ferritin, and serum iron.  Results: 39 children between the ages of 12 months and 5 years were enrolled into the study. Exclusion criteria were as follows: children born at less than 37 weeks gestational age or those who had surgery in the past 6 months.  Based on these criteria, 3 children being excluded from the study. A detailed nutrition history was taken for participants found to have ID or IDA to look for possible nutrition causes of these conditions. The prevalence of ID was 30.56% and IDA was 5.56%. In our sample, there were more Caucasian children with ID than African American or Hispanic children. Males and females were equally likely to have ID/IDA. Using logistic regression analysis, we did not identify any nutritional risk factors for developing ID/IDA. RDW, MCH and MCHC were significantly associated with ID or IDA status.  Conclusion:  The high prevalence of ID/IDA in this study population warrants a larger study involving multiple centers to determine the true prevalence of ID/IDA in children with Down syndrome. Such a study could aid in developing new laboratory parameters with greater sensitivity and specificity in detecting iron deficiency in patients with DS.

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