Complications of delayed diagnosis and challenges: successfully managed SPTB gene variant hereditary...
Complications of delayed diagnosis and challenges: successfully managed SPTB gene variant hereditary spherocytosis with hepatocellular jaundice-a case report
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England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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Hereditary spherocytosis is a rare genetic disorder of the red blood cell 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...
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Complications of delayed diagnosis and challenges: successfully managed SPTB gene variant hereditary spherocytosis with hepatocellular jaundice-a case report
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TN_cdi_doaj_primary_oai_doaj_org_article_11a2ce23ee0d4eeabf44f5c55fc3591a
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_11a2ce23ee0d4eeabf44f5c55fc3591a
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ISSN
1752-1947
E-ISSN
1752-1947
DOI
10.1186/s13256-024-04872-x
