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Heme/onc conditions in Down syndrome (DS) are rare, seen in only 1 to 2 percent of individuals with DS. However, the consequences can be serious. This document will review the spectrum of associated heme/onc conditions as well as important screening guidelines.
Transient Myeloproliferative Disorder (TMD)
Germ cell tumors
Individuals with DS tend to have a lower incidence of most solid tumors, specifically: CNS and peripheral nerve tumors, neuroblastomas and Wilms tumors, along with bronchial, nasopharyngeal, urinary tract, uterine, breast and skin carcinomas.
The AAP guidelines recommend screening newborns with DS with a CBC and differential to evaluate for myeloproliferative disorders, polycythemia, anemia, and thrombocytopenia. The AAP guidelines then suggest annual screening of hemoglobin. If there is a concern for a diet low in iron or if hemoglobin is <11, it is recommended to order a ferritin and CRP or reticulocyte hemoglobin, as the MCV can be an unreliable predictor. If CRP is elevated, then the ferritin is not reliable as both can be acute phase reactants.
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