Affiliation:
1. All Africa Leprosy, Tuberculosis and Rehabilitation Training Center, Addis Ababa, Ethiopia
2. Addis Ababa University College of Health Science, Addis Ababa, Ethiopia
Abstract
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.
Publisher
Research Square Platform LLC
Reference10 articles.
1. The diagnostic protocol for hereditary spherocytosis-2021 update;Wu Y;Journal of Clinical Laboratory Analysis,2021
2. Hereditary spherocytosis;Perrotta S;The Lancet,2008
3. Guidelines for the diagnosis and management of hereditary spherocytosis – 2011 update;Bolton-Maggs PHB;British Journal of Haematology,2012
4. Hereditary spherocytosis complicated by intrahepatic cholestasis: two case reports;Han N;Annals of Translational Medicine,2022
5. Hereditary Spherocytosis With Liver Transplantation After Cirrhosis: A Case Report;Yang X;Frontiers in Medicine,2022