From: Molecular diagnosis of hereditary spherocytosis by multi-gene target sequencing in Korea: matching with osmotic fragility test and presence of spherocyte
RBC membrane protein-encoding genes
No. of patients with mutation (%)
No. of patients without mutation (%)
OFT
(n = 47)
Positive
33 (70.2)
8 (17.0)
Negative
5 (10.6)
1 (2.1)
PBS
(n = 59)
46 (78.0)
8 (13.6)
4 (6.8)
1 (1.7)