Article
De novo mutations in ANK1 and SPTB cause hereditary spherocytosis: three case reports and literature review.
Annals of hematology - 1 Apr 2026
Qin Yumei, Lu Liuting, Huang Xiaojing, Li Wei, Qin Yanming, Tang Shifu, Wei Shaojie
Abstract excerpt
Hereditary spherocytosis (HS) is characterized primarily by jaundice, anemia, splenomegaly (enlarged spleen), increased numbers of spherocytes in peripheral blood, and elevated erythrocyte osmotic fragility. However, these manifestations are nonspecific, resulting in misdiagnosis or underdiagnosis. Here, we report three Chinese patients with a family history of HS. Case 1 was an infant who presented with jaundice...
Topics
- Female
- Humans
- Infant
- Male
- Ankyrins
- Heterozygote
- Mutation
- Spectrin
- Spherocytosis, Hereditary
- Child
- Adult