Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with Congenital Dyserythropoietic Anemia Type I

System/ConcernEvaluationComment
Anemia
  • Hemoglobin concentration
  • Serum bilirubin concentration
At diagnosis
Iron overload Serum ferritin concentrationIn persons who are not transfusion dependent beginning at age 10 yrs
Liver & myocardial T2-weighted MRI
Biliary stones Abdominal ultrasound examBeginning at age 5 yrs
Skeletal
anomalies 		Clinical exam for scoliosis by orthopedic surgeonBeginning at age 5-6 yrs
Eval of osteoporosis by bone specialistBeginning at age 15 yrs
Ophthalmic
manifestations 		Ophthalmology exam incl vision assessmentBeginning at age 40 yrs
Genetic
counseling 		By genetics professionals 1To inform patients & families re nature, MOI, & implications of CDA I in order to facilitate medical & personal decision making

CDA = congenital dyserythropoietic anemia; MOI = mode of inheritance

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: Congenital Dyserythropoietic Anemia Type I

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