Sri Lanka Journal of Medicine (Jul 2021)
An incidental finding of a Southeast Asian ovalocytosis patient in Sri Lanka: a case report and review of the literature
Abstract
Southeast Asian ovalocytosis (SAO) is an autosomal dominant, red cell membrane defect due to mutation in SLC4A1 gene which code for band 3 protein. Though this condition is common among Southeast Asia, the prevalence is very low in Sri Lanka. We report a case of asymptomatic SAO in western province, Sri Lanka who was found incidentally. She was treated for pyelonephritis and while investigating, the peripheral blood film reveals, the presence of numerous ovalocytes (knizocytes) and elliptocytes compatible with SAO. Diagnosis is done by finding many ovalocytes in the blood film supported by genetic analysis and knizocytes are also seen in the blood film. Treatment is unnecessary. Good prognosis has observed in heterozygous form.
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