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HAEMOLYSIS AS SCREENING TEST IN LYSOSOMAL STORAGE DISEASES
Author(s):
Laura López De Frutos
,
Laura López De Frutos
Affiliations:
Unidad de Investigación Traslacional. Hospital Universitario Miguel Servet,Instituto de Investigación Sanitaria Aragón (IIS Aragón),Zaragoza,Spain;Unidad de Investigación Traslacional. Hospital Universitario Miguel Servet,Fundación Española para el Estudio y Terapéutica de la Enfermedad de Gaucher y Otras Lisosomales (FEETEG),Zaragoza,Spain
Jorge J Cebolla
,
Jorge J Cebolla
Affiliations:
Unidad de Investigación Traslacional. Hospital Universitario Miguel Servet,Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER),Zaragoza,Spain;Unidad de Investigación Traslacional. Hospital Universitario Miguel Servet,Instituto de Investigación Sanitaria Aragón (IIS Aragón),Zaragoza,Spain;Departamento de Bioquímica, Biología Molecular y Celular,Universidad de Zaragoza,Zaragoza,
Pilar Irún
,
Pilar Irún
Affiliations:
Unidad de Investigación Traslacional. Hospital Universitario Miguel Servet,Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER),Zaragoza,Spain;Unidad de Investigación Traslacional. Hospital Universitario Miguel Servet,Instituto de Investigación Sanitaria Aragón (IIS Aragón),Zaragoza,Spain
Pilar Giraldo
Pilar Giraldo
Affiliations:
Unidad de Investigación Traslacional. Hospital Universitario Miguel Servet,Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER),Zaragoza,Spain;Unidad de Investigación Traslacional. Hospital Universitario Miguel Servet,Instituto de Investigación Sanitaria Aragón (IIS Aragón),Zaragoza,Spain;Unidad de Investigación Traslacional. Hospital Universitario Miguel Servet,Fundación Españ
(Abstract release date: 05/18/17) EHA Library. López De L. 05/18/17; 182799; PB2085
Ms. Laura López De
Ms. Laura López De
Contributions
PDF Abstract
Abstract

Abstract: PB2085

Type: Publication Only

Background

Lysosomal storage disorders (LSDs) are a group of rare inherited metabolic diseases, whose clinical hallmark is organomegaly among others, due to progressive accumulation of several non-catalyzed products inside the lysosomes. This storage leads to intracellular oxidative stress status triggering oxidized metabolites production as oxysterols, which are related to apoptosis and cellular eriptosis, as well as haemolysis dysregulation.

Aims
To evaluate the link between LSDs and haemolysis and if it could be used as a screening test in LSDs.

Methods
The osmotic resistance test (ORT) was evaluated in 150 samples including controls, LSDs carriers (LSDs-C) and LSDs patients (LSDs-P). Briefly, the blood was mixed with different concentrations of sodium chloride solution (NaCl) and the haemoglobin released was quantified by spectrophotometry. The raw data was normalized using isotonic solution (0.9% NaCl). The statistical analysis (non-parametric tests and ROC curves), was computed by IBM SPSS statistics v22 software and all statistical tests will be considered and taken as bilateral significance level α = 0.05.

Results

The analysis shown that haemolysis at 0.48% of NaCl allow us to sort out controls vs LSDs-C/LSDs-P (AUC=0.726) whereas no significant differences were observed between LSDs-C and LSDs-P (p-value>0.05).

Conclusion
According to our results the ORT test is an useful screening test in LSDs.

Session topic: 31. Other Non-malignant hematopoietic disorders

Keyword(s): Lysosomal storage disease

Abstract: PB2085

Type: Publication Only

Background

Lysosomal storage disorders (LSDs) are a group of rare inherited metabolic diseases, whose clinical hallmark is organomegaly among others, due to progressive accumulation of several non-catalyzed products inside the lysosomes. This storage leads to intracellular oxidative stress status triggering oxidized metabolites production as oxysterols, which are related to apoptosis and cellular eriptosis, as well as haemolysis dysregulation.

Aims
To evaluate the link between LSDs and haemolysis and if it could be used as a screening test in LSDs.

Methods
The osmotic resistance test (ORT) was evaluated in 150 samples including controls, LSDs carriers (LSDs-C) and LSDs patients (LSDs-P). Briefly, the blood was mixed with different concentrations of sodium chloride solution (NaCl) and the haemoglobin released was quantified by spectrophotometry. The raw data was normalized using isotonic solution (0.9% NaCl). The statistical analysis (non-parametric tests and ROC curves), was computed by IBM SPSS statistics v22 software and all statistical tests will be considered and taken as bilateral significance level α = 0.05.

Results

The analysis shown that haemolysis at 0.48% of NaCl allow us to sort out controls vs LSDs-C/LSDs-P (AUC=0.726) whereas no significant differences were observed between LSDs-C and LSDs-P (p-value>0.05).

Conclusion
According to our results the ORT test is an useful screening test in LSDs.

Session topic: 31. Other Non-malignant hematopoietic disorders

Keyword(s): Lysosomal storage disease

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