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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Specialty: Hematology Oncology, Clinical Laboratory