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
Published online Oct 26, 2019. doi: 10.12998/wjcc.v7.i20.3303
Table 1 The charactistics of the patient
Gender | Age | Onset age | Symptoms and signs |
Female | 21 years | Since birth | Anemia, severe jaundice, splenomegaly |
Laboratory examination | |||
Before treatment | After treatment | ||
HGB (g/L) | 105 | 114 | |
ARC (×1012/L) | 0.2083 | N/E | |
TBIL (μmol/L) | 111.8 | 88.69 | |
DBIL (μmol/L) | 35.4 | 29.9 | |
IBIL (μmol/L) | 76.4 | 58.79 | |
DBIL/TBIL (%) | 31.7 | 33.7 | |
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) |
- Citation: Li Y, Li Y, Yang Y, Yang WR, Li JP, Peng GX, Song L, Fan HH, Ye L, Xiong YZ, Wu ZJ, Zhou K, Zhao X, Jing LP, Zhang FK, Zhang L. Next generation sequencing reveals co-existence of hereditary spherocytosis and Dubin–Johnson syndrome in a Chinese gril: A case report. World J Clin Cases 2019; 7(20): 3303-3309
- URL: https://www.wjgnet.com/2307-8960/full/v7/i20/3303.htm
- DOI: https://dx.doi.org/10.12998/wjcc.v7.i20.3303