Table 1.

Laboratory data at presentation (cases 1 and 2)

Variable	Proband	Father	Mother
Age, yr	30.0	58.0	54.0
Hemoglobin, g/dL	15.8	14.5	13.9
Reticulocyte, %	7.17	2.03	3.82
Blood smear	Spherocytes	Spherocytes, acanthocytes	Spherocytes
Total BIL, μmol/L	56.6	22.1	12.5
Direct BIL, μmol/L	9.9	3.4	2.6
Albumin/globulin, g/L	48.7/24.0	51.2/22.7	48.3/23.7
ALT/AST, U/L	6.0/12.0	8.7/13.7	6.1/14.0
ALP/GGT, U/L	62.0/19.0	46.0/25.0	84.0/22.0
RBC lifespan, d	28	59	35
Genetic mutations
UGT1A1	c.211G>A/-	c.211G>A/-	-/-
ANK1	c.1801-17G>A/-	c.925A>G/-	c.1801-17G>A /-

BIL: Bilirubin; ALT: Alanine aminotransferase; AST: Aspartate aminotransferase; ALP: Alkaline phosphatase; GGT: γ-glutamyl transpeptidase; RBC: Erythrocyte.