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For pediatric patients with iron overload (high ferritin and transferrin saturation), do you perform HFE screening first, or proceed to non-HFE gene sequencing upfront to evaluate for HJV mutation as well?

Especially considering that family history is not fully available.
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When do you consider non-HFE gene testing in children with iron overload of unclear etiology?

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1 Answer
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Pediatric Hematology/Oncology · St. Jude Children’s Research Hospital
Answered on

Because there is no recommended "screening" scenario for iron overload in pediatrics (especially with no family history), the question for me revolves around "why did the patient get tested in the first place?" If it were a routine screen for iron deficiency, which affects millions of children at an...

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