Hereditary Elliptocytosis- A Case Report
- Author Dipti Sidam
- Co-Author Priyanka Gogoi, Preeti Diwaker, Wonchibeni T Murry
- DOI
- Country : India
- Subject : pathology
Keywords : Hereditary elliptocytosis, Elliptocytes, Erythrocyte membrane, Anemia, Hemolysis
Abstract
Hereditary elliptocytosis is a rare genetically determined erythrocytic disorder with elliptical red cells on peripheral blood smear. We present a case of a 12-year-old male who presented with a history of easy fatigability accompanied by breathlessness for 6 months and fever on and off for 5 days. On examination, he had severe pallor with mild icterus, mild hepatomegaly and moderate splenomegaly. Hematological investigation showed severe anemia with Hemoglobin of 3.9g/dl. Peripheral smear revealed numerous elliptocytes. Further investigations pointed towards a final diagnosis of hereditary elliptocytosis.
Hereditary elliptocytosis is mostly clinically silent, sometimes presenting with hemolysis. The most prominent peripheral blood finding is the presence of elliptocytes which should not be missed as it plays an important role in the diagnosis. The mostly clinically silent nature and the numerous differential diagnosis of elliptocytes makes it diagnostically challenging.
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