A large family of hereditary spherocytosis and a rare case of hereditary elliptocytosis with a novel SPTA1 mutation underdiagnosed in Taiwan: A case report and literature review.

Abstract excerpt

RATIONALE: Hereditary spherocytosis (HS) has a defect in the vertically connected proteins on the cell membrane of red blood cells (RBC). Hereditary elliptocytosis (HE) has a defect in proteins that connect the cell membrane horizontally. We reported two families of RBC membrane disorders in Taiwanese, one was HS and the other was HE. PATIENT CONCERNS: Case 1. A 19-year-old male student with chronic jaundice and...

Topics

• Adult
• Female
• Humans
• Male
• Young Adult
• Cytoskeletal Proteins
• Elliptocytosis, Hereditary
• Jaundice
• Mutation
• Pallor
• Spherocytosis, Hereditary