ArticleCureus2024
Hereditary Spherocytosis: Unravelling the Diagnostic Challenges.
Article in Cureus, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Authors and funding
5 authors.
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Abstract
Hereditary spherocytosis (HS) is a genetic disorder characterized by the presence of spherocytes, which are abnormally shaped red blood cells, leading to hemolytic anemia. While HS is not uncommon in hematology, it can present significant diagnostic and therapeutic challenges in its late stages, particularly when complicated by severe cholestasis. We report a case of a 48-year-old male presenting with jaundice and abdominal pain, initially diagnosed with cholecystolithiasis and moderate splenomegaly. Subsequent investigations confirmed HS through clinical observation and eosin-5'-maleimide (EMA) binding by flow cytometry. The patient exhibited severe jaundice (total bilirubin: 19.58 mg/dL) but no anemia. The complexity of his condition necessitated a multidisciplinary approach involving hematologists and gastroenterologists along with general medicine. This case underscores the importance of considering HS in the differential diagnosis of cholestasis and highlights the need for comprehensive diagnostic strategies to manage such complications effectively.
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