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

doi:10.4254/wjh.v13.i10.1428

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Oct 27, 2021 (publication date) through Jul 25, 2024

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World Journal of Hepatology

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1948-5182

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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

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World J Hepatol. Oct 27, 2021; 13(10): 1428-1438
Published online Oct 27, 2021. doi: 10.4254/wjh.v13.i10.1428

Table 2 Variants of ATP7B gene in children with hemolytic anemia and acute liver failure

Variants		Hemolytic Anemia + ALF (8 patients)	Other clinical forms (44 patients)	P value
p.Trp939Cys (c.2817G>T)	5 homozygotes	6 (42.86%)	4 (4.55%)	0.0000
p.Lys844Ter (c.2530A>T)	1 homozygotes	4 (28.57%)	1 (1.14%)	0.0000
p.Lys844Ter (c.2530A>T)	3 heterozygotes	4 (28.57%)	1 (1.14%)	0.0000
p.Gly1341Asp (c.4021G>A)	10 homozygotes	4 (28.57%)	23 (26.14%)	0.8482
p.Gly1341Asp (c.4021G>A)	7 heterozygotes	4 (28.57%)	23 (26.14%)	0.8482
p.His1069Gln (c.3207A>G)	12 homozygotes	0	39 (44.32%)	0.0015
p.His1069Gln (c.3207A>G)	15 heterozygotes	0	39 (44.32%)	0.0015
Other variants	1 homozygotes	2 (14.29%)	19 (21.59%)	0.5304
Other variants	19 heterozygotes	2 (14.29%)	19 (21.59%)	0.5304
Total alleles		14 (100%)	88 (100%)

ALF: Acute liver failure.

Citation: Pop TL, Grama A, Stefanescu AC, Willheim C, Ferenci P. Acute liver failure with hemolytic anemia in children with Wilson’s disease: Genotype-phenotype correlations? World J Hepatol 2021; 13(10): 1428-1438
URL: https://www.wjgnet.com/1948-5182/full/v13/i10/1428.htm
DOI: https://dx.doi.org/10.4254/wjh.v13.i10.1428