Case Report
Copyright ©The Author(s) 2020.
World J Clin Cases. May 26, 2020; 8(10): 2001-2008
Published online May 26, 2020. doi: 10.12998/wjcc.v8.i10.2001
Table 1 Laboratory data at presentation (cases 1 and 2)
VariableProbandFatherMother
Age, yr30.058.054.0
Hemoglobin, g/dL15.814.513.9
Reticulocyte, %7.172.033.82
Blood smearSpherocytesSpherocytes, acanthocytesSpherocytes
Total BIL, μmol/L56.622.112.5
Direct BIL, μmol/L9.93.42.6
Albumin/globulin, g/L48.7/24.051.2/22.748.3/23.7
ALT/AST, U/L6.0/12.08.7/13.76.1/14.0
ALP/GGT, U/L62.0/19.046.0/25.084.0/22.0
RBC lifespan, d285935
Genetic mutations
UGT1A1c.211G>A/-c.211G>A/--/-
ANK1c.1801-17G>A/-c.925A>G/-c.1801-17G>A /-