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Incidental finding of Southeast Asian Ovalocytosis

Incidental finding of Southeast Asian Ovalocytosis
#00063015
Author: Bryan Tordon; Luke Shier
Category: Red Cell: Hemolytic Anemia (HA) > HS/HE and RBC membrane or enzyme Disorders
Published Date: 05/18/2020

Southeast Asian Ovalocytosis is an uncommon inherited red cell membranopathy that can be associated with mild hemolysis, but is however most commonly an asymptomatic finding on peripheral blood smear. A 40 year-old female from the Philippines presented for routine blood work, the peripheral blood smear showed numerous ovalocytes, stomatocytes present, and theta cells present. The patient did not have any known comorbidities, and common secondary causes of stomatocytes including hepatic disease, certain medications (e.g. Hydroxyurea or Phenothiazine antiemetics), as well as alcohol consumption were ruled out. Hemoglobin was 132g/L, mean corpuscular volume 79fL (ref. range 80-98), hematocrit 0.38 and erythrocyte distribution width of 15.6%. Changes were noted to be persistent with previous blood as well. The mechanism for this condition lies within a defect in gene encoding for the band 3 protein, located in the erythrocyte membrane. The eosin-5’-maleimide (DNA) detection of Band-3 protein in this patient showed a reduced mean channel fluorescence with 45.5 MCV Units (range 61.4-72.8 MCV), consistent with the diagnosis of Southeast Asian Ovalocytosis in this patient.