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How would you work up a mildly neutropenic patient (ANC >800) with family history of neutropenia and personal history of occasional mouth sore?

What are indications to order gene mutation studies (e.g. ELANE) and how would it help the patient?
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How do you recommend working up patients with family history of mild neutropenia and minimal symptoms?

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1 Answer
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Pediatric Hematology/Oncology · UMass Chan Medical School
Answered on

The first question is whether to evaluate the neutropenia at all. With ANCs >800 and only occasional mouth sores, is a diagnosis necessary, and should the term “neutropenia” be used at all? If the family’s origin is in a part of the world where the Duffy null phenotype is common (e.g. Africa, parts ...

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