Acute liver failure with hemolytic anemia in children with Wilson’s disease: Genotype-phenotype correlations?

Table 3 Data regarding the patients evaluated for the HSD17B13:TA variant

	All	HSD17B13 genotype
		T/T	TA/T	TA/TA
n (%)	33	19 (57.58)	12 (36.36)	2 (6.06)
Females, n (%)	16	11	5	0
Mean age (yr)	11.67 ± 3.12	11.09 ± 3.45	12.14 ± 2.25	14.70 ± 3.24
Clinical presentation, n (%)
ALF and/or hemolytic anemia	7 (21.21)	5 (71.43)	2 (28.57)	0
Less severe hepatic forms	26 (78.79)	14 (53.85)	10 (38.46)	2 (7.69)
ATP7B variant
p.His1069Gln (c.3206A>G)/p.His1069Gln (c.3206A>G)	5	2	3	0
p.His1069Gln (c.3206A>G)/p.Gly1341Asp (c.4021G>A)	6	3	3	0
p.His1069Gln (c.3206A>G)/other	7	4	3	0
p.Gly1341Asp (c.4021G>A)/p.Gly1341Asp (c.4021G>A)	7	3	2	2
p.Trp939Cys (c.2817G>T)/p.Trp939Cys (c.2817G>T)	4	4	0	0
p.Trp939Cys (c.2817G>T)/other	1	1	0	0
p.Lys844Ter (c.2530A>T)/p.Lys844Ter (c.2530A>T)	1	1	0	0
p.Lys844Ter (c.2530A>T)/ other	2	1	1	0

ALF: Acute liver failure.