Table 2 Effects of HFE C282Y (upper panel) and stratification by CPSI T1405N genotype (lower panel) on HVOD and day 60 mortality32,33

From: Genomic screening and complications of hematopoietic stem cell transplantation: has the time come?

No. of HFE C282Y alleles

HVOD (95% CI)a (N=30)

Day 60 mortality (95% CI)b(N=24)

0 (n=132)

1.0

 

1.0

 

1 or 2 (n=34)

3.7 (1.2, 12.1)

 

1.7 (0.4, 7.9)

 

2 (n=10)

8.6 (1.5, 48.9)

 

0.4 (0.03, 6.3)

 

CPSI variant

HVOD cases by no. of HFE C282Y alleles

P-value (trend)

 

0 (wt) (%)

1 (heterozygote) (%)

2 (homozygote) (%)

 

AA (N=18)

0

0

0

—

AC (N=79)

20

38

50

0.10

CC (N=69)

11

25

43

0.02

  1. SNP=single-nucleotide polymorphism; HSCT=stem cell transplantation; HVOD=hepatic veno-occlusive disease, defined by strict Baltimore criteria.15
  2. CPSI=carbamyl-phosphate synthetase I; 95% CI=95% confidence interval.
  3. Variants of CPSI enzyme: AA, Asn1405; AC, Asn/Thr1405; CC, Thr1405.
  4. aRelative risk of HVOD, adjusted for previous radiation, donor type (related/unrelated), and pulmonary diffusing capacity for carbon monoxide at baseline (normal or <70% of normal).
  5. bRelative risk of death on or before day 60 post transplant, adjusted for donor type and acute lung injury. (Patients with and without HFE mutations did not differ at baseline with respect to demographic variables, liver function, CPSI genotype, transplant type (allogeneic vs autologous), or conditioning regimen.)
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