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The heritability of hemolysis in stored human red blood cells.

Author(s): Van 't Erve TJ, Wagner BA, Martin SM, Knudson CM, Blendowski R, Keaton M, Holt T, Hess JR, Buettner GR, Ryckman KK, Darbro BW, Murray JC, Raife TJ

Publication: Transfusion, 2015, Vol. 55, Page 1178-85

PubMed ID: 25644965 PubMed Review Paper? No

Purpose of Paper

Conclusion of Paper

Studies

1. Study Purpose

   The purpose of this study was to determine the effects of genetics and refrigerated storage duration of RBCs on hemolysis, MCV and Hb levels, and to investigate the correlation between hemolysis, ATP, tGSH and 213 metabolites in RBCs. AS-3 preserved RBCs were obtained from 11 monozygotic and 5 dizygotic twin pairs. Zygosity was confirmed by genotyping using a panel of 24 TaqMan SNP assays and monozygousity was assigned when the genotype was >90% concordant. Heritability was calculated based on the interclass correlation coefficients (ICC) for monozygous and dizygous twin pairs.

   Summary of Findings:

   During refrigerated storage of RBCs, hemolysis increased progressively, and with the exception of day 1, hemolysis levels were heritable (28-54%). Hemolysis was not correlated with intracellular ATP levels or tGSH, but initially it was found to be correlated with 16 of 213 metabolites. However, after correction for multiple testing, the correlation to hemolysis was no longer significant for any of these metabolites. Among the 16 metabolites initially found to correlate with hemolysis, levels of 7 metabolites, including glucose-6-phosphate (G6P), 2-oleoylglycero phosphocholine, adenosine diphosphate (ADP), phenol sulfate, carnitin, chiro-inositol and guanosine 50-diphosphofucose, were found to be heritable (30%, 53%, 74%, 40%, 24% 47% and 20%, respectively). While average MCV and Hb levels were unaffected by refrigerated storage of RBCs, for some individuals, an increase in MCV with storage was noted. MCV and Hb levels were also found to be 59% and 40% heritable, respectively. As expected, BMI, height and weight were all heritable (63%, 96%, and 97%, respectively). 

   Biospecimens

   • Cell - Red Blood Cells

   Preservative Types

   • Other Preservative

   Diagnoses:

   • Not specified

   Platform:

   Analyte	Technology Platform
   Cell count/volume	Spectrophotometry
   Small molecule	HPLC

   Pre-analytical Factors:

   Classification	Pre-analytical Factor	Value(s)
   Storage	Storage duration	0 days 14 days 28 days 42 days 56 days
   Preaquisition	Patient genotype	Monozygous twins Dizygous twins

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