Table 5. [Recommended Surveillance for Individuals with Congenital Dyserythropoietic Anemia Type I]. - GeneReviews®

System/Concern	Evaluation	Frequency
Anemia	Hemoglobin	Every 3-6 mos, more frequent at time of infections
Iron overload	Bilirubin, iron, transferrin & serum ferritin concentration	Every 6-12 mos beginning at age 10 yrs
Liver & myocardial T₂-weighted MRI	Annually beginning at age 10 yrs (if available)
Biliary stones	Abdominal ultrasound	Annually beginning at age 5 yrs
Scoliosis	Exam w/orthopedist	As needed
Osteoporosis	Bone densitometry	As recommended by bone specialist
Vision issues	Visual acuity, fundoscopic exam	Annually beginning at age 40 yrs, earlier if symptomatic

From: Congenital Dyserythropoietic Anemia Type I

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Adam MP, Feldman J, Mirzaa GM, et al., editors.

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