Description

Hereditary spherocytosis may present during the neonatal period and may be easily confused with other causes of neonatal hyperbilirubinemia.


Presentation: anemia and hyperbilirubinemia during the first week after birth

 

Clinical and laboratory features:

(1) family history of hereditary spherocytosis

(2) elevated MCHC and low MCV, with MCHC to MCV ratio often > 0.36 (may be lower)

(3) variable prominence of spherocytes in the peripheral blood smear

(4) negative DAT

 

Additional laboratory testing:

(1) incubated osmotic fragility

(2) EMA flow cytometry

(3) genetic testing


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