Case Report
Copyright ©The Author(s) 2019.
World J Clin Cases. Oct 26, 2019; 7(20): 3303-3309
Published online Oct 26, 2019. doi: 10.12998/wjcc.v7.i20.3303
Table 1 The charactistics of the patient
GenderAgeOnset ageSymptoms and signs
Female21 yearsSince birthAnemia, severe jaundice, splenomegaly
Laboratory examination
Before treatmentAfter treatment
HGB (g/L)105114
ARC (×1012/L)0.2083N/E
TBIL (μmol/L)111.888.69
DBIL (μmol/L)35.429.9
IBIL (μmol/L)76.458.79
DBIL/TBIL (%)31.733.7
NGS results
A de novo heterozygous mutation of the SPTB gene, c.2413 C > T (p.Gln805*)
The mutation of the ABCC2 gene from the father: c.4313+1 G > T
The mutation of the ABCC2 gene from the mother c.3629 G > A (R1210H)