Neutropenia as feature of Shwachman Diamond Syndrome

Neutropenia or neutropaenia is an abnormally low concentration of neutrophils (a type of white blood cell) in the blood. Patients with neutropenia are more susceptible to bacterial infections and, without prompt medical attention, the condition may become life-threatening.

Hematologic abnormalities in Shwachman Diamond Syndrome may include:

a. Neutropenia <1.5 x 109/L on at least 2 occasions over at least 3 months

b. Hypoproductive cytopenia detected on 2 occasions over at least 3 months

Tests that support the diagnosis but require corroboration:

a. Persistent elevation of haemoglobin F (on at least 2 occasions over at least 3 months apart).

b. Persistent red blood cell macrocytosis (on at least 2 occasions over at least 3 months apart), not caused by other aetiologies such as haemolysis or a nutritional deficiency