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Complications of Delayed Diagnosis and Challenges: Hereditary Spherocytosis with Hepatocellular Jaundice, a Case Report from Ethiopia
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Abstract
Hereditary spherocytosis is a rare genetic disorder of the RBC membrane that is characterized by anemia, jaundice, and splenomegaly; however, in the absence of family history and with unusual clinical presentation, the diagnosis might not be made until later in life. Here, we present a challenging case of genetically proven hereditary spherocytosis that involves the SPTB gene in a 23-year-old female patient who had repeated medical visits for episodic jaundice, where the delay in diagnosis led to several complications.
Springer Science and Business Media LLC
Title: Complications of Delayed Diagnosis and Challenges: Hereditary Spherocytosis with Hepatocellular Jaundice, a Case Report from Ethiopia
Description:
Abstract
Hereditary spherocytosis is a rare genetic disorder of the RBC membrane that is characterized by anemia, jaundice, and splenomegaly; however, in the absence of family history and with unusual clinical presentation, the diagnosis might not be made until later in life.
Here, we present a challenging case of genetically proven hereditary spherocytosis that involves the SPTB gene in a 23-year-old female patient who had repeated medical visits for episodic jaundice, where the delay in diagnosis led to several complications.
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